Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal reproductive system morphology (HP:0012243)

Parent Node:
Abnormal external genitalia (HP:0000811)

..Starting node
..External genital hypoplasia (HP:0003241)

Term ID:

3241

Name:

External genital hypoplasia

Synonym:

Hypogenitalism; Small genitalia; Underdevelopment of external reproductive organs

Definition:

Underdevelopment of part or all of the external reproductive organs.

Comments:

Reference:

HP:0003241

Genes and Diseases:

Child Nodes:

........

Hypoplastic male external genitalia (HP:0000050)

................... HP:0000046 Scrotal hypoplasia
................... HP:0008734 Decreased testicular size
................... HP:0008736 Hypoplasia of penis

........

Hypoplastic female external genitalia (HP:0012815)

................... HP:0000060 Clitoral hypoplasia
................... HP:0000066 Labial hypoplasia

Sister Nodes:

Abnormal genital pigmentation (HP:0012293)

Abnormality of female external genitalia (HP:0000055)

Abnormality of male external genitalia (HP:0000032)

Absent external genitalia (HP:0000042)

Ambiguous genitalia (HP:0000062)

Overgrowth of external genitalia (HP:0003247)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003241	HP:0003241	External genital hypoplasia	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa		826
HP:0003241	HP:0003241	External genital hypoplasia	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0003241	HP:0003241	External genital hypoplasia	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0003241	HP:0003241	External genital hypoplasia	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0003241	HP:0003241	External genital hypoplasia	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0003241	HP:0003241	External genital hypoplasia	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0003241	HP:0003241	External genital hypoplasia	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa		2
HP:0003241	HP:0003241	External genital hypoplasia	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa		175
HP:0003241	HP:0003241	External genital hypoplasia	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa		2
HP:0003241	HP:0003241	External genital hypoplasia	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0003241	HP:0003241	External genital hypoplasia	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0003241	HP:0003241	External genital hypoplasia	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0003241	HP:0003241	External genital hypoplasia	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0003241	HP:0003241	External genital hypoplasia	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0003241	HP:0003241	External genital hypoplasia	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0003241	HP:0003241	External genital hypoplasia	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0003241	HP:0003241	External genital hypoplasia	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome		132
HP:0003241	HP:0003241	External genital hypoplasia	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0003241	HP:0003241	External genital hypoplasia	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0003241	HP:0003241	External genital hypoplasia	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0003241	HP:0003241	External genital hypoplasia	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0003241	HP:0003241	External genital hypoplasia	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0003241	HP:0003241	External genital hypoplasia	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0003241	HP:0003241	External genital hypoplasia	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0003241	HP:0003241	External genital hypoplasia	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0003241	HP:0003241	External genital hypoplasia	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa		6
HP:0003241	HP:0003241	External genital hypoplasia	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional	219
HP:0003241	HP:0003241	External genital hypoplasia	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa		3
HP:0003241	HP:0003241	External genital hypoplasia	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa		1
HP:0003241	HP:0003241	External genital hypoplasia	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0003241	HP:0003241	External genital hypoplasia	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0003241	HP:0003241	External genital hypoplasia	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3		29
HP:0003241	HP:0003241	External genital hypoplasia	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa		29
HP:0003241	HP:0003241	External genital hypoplasia	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0003241	HP:0003241	External genital hypoplasia	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0003241	HP:0003241	External genital hypoplasia	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0003241	HP:0003241	External genital hypoplasia	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0003241	HP:0003241	External genital hypoplasia	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia		166
HP:0003241	HP:0003241	External genital hypoplasia	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0003241	HP:0003241	External genital hypoplasia	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0003241	HP:0003241	External genital hypoplasia	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0003241	HP:0003241	External genital hypoplasia	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0003241	HP:0003241	External genital hypoplasia	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0003241	HP:0003241	External genital hypoplasia	0	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0003241	HP:0003241	External genital hypoplasia	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0003241	HP:0003241	External genital hypoplasia	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0003241	HP:0003241	External genital hypoplasia	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0003241	HP:0003241	External genital hypoplasia	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0003241	HP:0003241	External genital hypoplasia	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0003241	HP:0003241	External genital hypoplasia	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0003241	HP:0003241	External genital hypoplasia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa		114
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2	.	97
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa		97
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4	.	87
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5	.	25
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0003241	HP:0003241	External genital hypoplasia	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0003241	HP:0003241	External genital hypoplasia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa		182
HP:0003241	HP:0003241	External genital hypoplasia	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0003241	HP:0003241	External genital hypoplasia	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0003241	HP:0003241	External genital hypoplasia	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0003241	HP:0003241	External genital hypoplasia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0003241	HP:0003241	External genital hypoplasia	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0003241	HP:0003241	External genital hypoplasia	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa		23
HP:0003241	HP:0003241	External genital hypoplasia	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0003241	HP:0003241	External genital hypoplasia	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0003241	HP:0003241	External genital hypoplasia	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0003241	HP:0003241	External genital hypoplasia	0	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0003241	HP:0003241	External genital hypoplasia	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0003241	HP:0003241	External genital hypoplasia	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0003241	HP:0003241	External genital hypoplasia	0	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0003241	HP:0003241	External genital hypoplasia	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0003241	HP:0003241	External genital hypoplasia	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0003241	HP:0003241	External genital hypoplasia	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0003241	HP:0003241	External genital hypoplasia	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0003241	HP:0003241	External genital hypoplasia	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0003241	HP:0003241	External genital hypoplasia	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0003241	HP:0003241	External genital hypoplasia	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0003241	HP:0003241	External genital hypoplasia	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0003241	HP:0003241	External genital hypoplasia	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0003241	HP:0003241	External genital hypoplasia	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa		147
HP:0003241	HP:0003241	External genital hypoplasia	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0003241	HP:0003241	External genital hypoplasia	0	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome		114
HP:0003241	HP:0003241	External genital hypoplasia	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0003241	HP:0003241	External genital hypoplasia	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0003241	HP:0003241	External genital hypoplasia	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0003241	HP:0003241	External genital hypoplasia	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0003241	HP:0003241	External genital hypoplasia	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0003241	HP:0003241	External genital hypoplasia	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0003241	HP:0003241	External genital hypoplasia	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0003241	HP:0003241	External genital hypoplasia	0	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15		90
HP:0003241	HP:0003241	External genital hypoplasia	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa		71
HP:0003241	HP:0003241	External genital hypoplasia	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0003241	HP:0003241	External genital hypoplasia	0	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1371
HP:0003241	HP:0003241	External genital hypoplasia	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0003241	HP:0003241	External genital hypoplasia	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0003241	HP:0003241	External genital hypoplasia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0003241	HP:0003241	External genital hypoplasia	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0003241	HP:0003241	External genital hypoplasia	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0003241	HP:0003241	External genital hypoplasia	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0003241	HP:0003241	External genital hypoplasia	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0003241	HP:0003241	External genital hypoplasia	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0003241	HP:0003241	External genital hypoplasia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa		60
HP:0003241	HP:0003241	External genital hypoplasia	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa		44
HP:0003241	HP:0003241	External genital hypoplasia	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa		164
HP:0003241	HP:0003241	External genital hypoplasia	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0003241	HP:0003241	External genital hypoplasia	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0003241	HP:0003241	External genital hypoplasia	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0003241	HP:0003241	External genital hypoplasia	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0003241	HP:0003241	External genital hypoplasia	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0003241	HP:0003241	External genital hypoplasia	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa		156
HP:0003241	HP:0003241	External genital hypoplasia	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa		158
HP:0003241	HP:0003241	External genital hypoplasia	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0003241	HP:0003241	External genital hypoplasia	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0003241	HP:0003241	External genital hypoplasia	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0003241	HP:0003241	External genital hypoplasia	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0003241	HP:0003241	External genital hypoplasia	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0003241	HP:0003241	External genital hypoplasia	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0003241	HP:0003241	External genital hypoplasia	0	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0003241	HP:0003241	External genital hypoplasia	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0003241	HP:0003241	External genital hypoplasia	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0003241	HP:0003241	External genital hypoplasia	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0003241	HP:0003241	External genital hypoplasia	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0003241	HP:0003241	External genital hypoplasia	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0003241	HP:0003241	External genital hypoplasia	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0003241	HP:0003241	External genital hypoplasia	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0003241	HP:0003241	External genital hypoplasia	0	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0003241	External genital hypoplasia	0	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0003241	External genital hypoplasia	0	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0003241	External genital hypoplasia	0	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0003241	External genital hypoplasia	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0003241	HP:0003241	External genital hypoplasia	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0003241	HP:0003241	External genital hypoplasia	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0003241	HP:0003241	External genital hypoplasia	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1		145
HP:0003241	HP:0003241	External genital hypoplasia	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0003241	HP:0003241	External genital hypoplasia	0	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0003241	External genital hypoplasia	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0003241	HP:0003241	External genital hypoplasia	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0003241	HP:0003241	External genital hypoplasia	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0003241	HP:0003241	External genital hypoplasia	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa		47
HP:0003241	HP:0003241	External genital hypoplasia	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0003241	HP:0003241	External genital hypoplasia	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0003241	HP:0003241	External genital hypoplasia	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0003241	HP:0003241	External genital hypoplasia	0	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome		2
HP:0003241	HP:0003241	External genital hypoplasia	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa		1
HP:0003241	HP:0003241	External genital hypoplasia	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0003241	HP:0003241	External genital hypoplasia	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0003241	HP:0003241	External genital hypoplasia	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0003241	HP:0003241	External genital hypoplasia	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0003241	HP:0003241	External genital hypoplasia	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0003241	HP:0003241	External genital hypoplasia	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0003241	HP:0003241	External genital hypoplasia	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0003241	HP:0003241	External genital hypoplasia	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0003241	HP:0003241	External genital hypoplasia	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0003241	HP:0003241	External genital hypoplasia	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0003241	HP:0003241	External genital hypoplasia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0003241	HP:0003241	External genital hypoplasia	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0003241	HP:0003241	External genital hypoplasia	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0003241	HP:0003241	External genital hypoplasia	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0003241	HP:0003241	External genital hypoplasia	0	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		4
HP:0003241	HP:0003241	External genital hypoplasia	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0003241	HP:0003241	External genital hypoplasia	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0003241	HP:0003241	External genital hypoplasia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0003241	HP:0003241	External genital hypoplasia	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0003241	HP:0003241	External genital hypoplasia	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0003241	HP:0003241	External genital hypoplasia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0003241	HP:0003241	External genital hypoplasia	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0003241	HP:0003241	External genital hypoplasia	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0003241	HP:0003241	External genital hypoplasia	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0003241	HP:0003241	External genital hypoplasia	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003241	HP:0003241	External genital hypoplasia	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003241	HP:0003241	External genital hypoplasia	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0003241	HP:0003241	External genital hypoplasia	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0003241	HP:0003241	External genital hypoplasia	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0003241	HP:0003241	External genital hypoplasia	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0003241	HP:0003241	External genital hypoplasia	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0003241	HP:0003241	External genital hypoplasia	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0003241	HP:0003241	External genital hypoplasia	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0003241	HP:0003241	External genital hypoplasia	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0003241	HP:0003241	External genital hypoplasia	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent	8
HP:0003241	HP:0003241	External genital hypoplasia	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0003241	HP:0003241	External genital hypoplasia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0003241	HP:0003241	External genital hypoplasia	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0003241	HP:0003241	External genital hypoplasia	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0003241	HP:0003241	External genital hypoplasia	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0003241	HP:0003241	External genital hypoplasia	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0003241	HP:0003241	External genital hypoplasia	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0003241	HP:0003241	External genital hypoplasia	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0003241	HP:0003241	External genital hypoplasia	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0003241	HP:0003241	External genital hypoplasia	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0003241	HP:0003241	External genital hypoplasia	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0003241	HP:0003241	External genital hypoplasia	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome		102
HP:0003241	HP:0003241	External genital hypoplasia	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa		209
HP:0003241	HP:0003241	External genital hypoplasia	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0003241	HP:0003241	External genital hypoplasia	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0003241	HP:0003241	External genital hypoplasia	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0003241	HP:0003241	External genital hypoplasia	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa		56
HP:0003241	HP:0003241	External genital hypoplasia	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0003241	HP:0003241	External genital hypoplasia	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0003241	HP:0003241	External genital hypoplasia	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0003241	HP:0003241	External genital hypoplasia	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0003241	HP:0003241	External genital hypoplasia	0	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		107
HP:0003241	HP:0003241	External genital hypoplasia	0	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28		107
HP:0003241	HP:0003241	External genital hypoplasia	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003241	HP:0003241	External genital hypoplasia	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0003241	HP:0003241	External genital hypoplasia	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0003241	HP:0003241	External genital hypoplasia	0	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia		2
HP:0003241	HP:0003241	External genital hypoplasia	0	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		2
HP:0003241	HP:0003241	External genital hypoplasia	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome		2
HP:0003241	HP:0003241	External genital hypoplasia	0	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		3
HP:0003241	HP:0003241	External genital hypoplasia	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome		3
HP:0003241	HP:0003241	External genital hypoplasia	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0003241	HP:0003241	External genital hypoplasia	0	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia		17
HP:0003241	HP:0003241	External genital hypoplasia	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome		17
HP:0003241	HP:0003241	External genital hypoplasia	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0003241	HP:0003241	External genital hypoplasia	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0003241	HP:0003241	External genital hypoplasia	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0003241	HP:0003241	External genital hypoplasia	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0003241	HP:0003241	External genital hypoplasia	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome		172
HP:0003241	HP:0003241	External genital hypoplasia	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0003241	HP:0003241	External genital hypoplasia	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0003241	HP:0003241	External genital hypoplasia	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum		172
HP:0003241	HP:0003241	External genital hypoplasia	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0003241	HP:0003241	External genital hypoplasia	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0003241	HP:0003241	External genital hypoplasia	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0003241	HP:0003241	External genital hypoplasia	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0003241	HP:0003241	External genital hypoplasia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0003241	HP:0003241	External genital hypoplasia	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0003241	HP:0003241	External genital hypoplasia	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0003241	HP:0003241	External genital hypoplasia	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0003241	HP:0003241	External genital hypoplasia	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0003241	HP:0003241	External genital hypoplasia	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome		4
HP:0003241	HP:0003241	External genital hypoplasia	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome		30
HP:0003241	HP:0003241	External genital hypoplasia	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0003241	HP:0003241	External genital hypoplasia	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0003241	HP:0003241	External genital hypoplasia	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0003241	HP:0003241	External genital hypoplasia	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0003241	HP:0003241	External genital hypoplasia	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0003241	HP:0003241	External genital hypoplasia	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa		26
HP:0003241	HP:0003241	External genital hypoplasia	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0003241	HP:0003241	External genital hypoplasia	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0003241	HP:0003241	External genital hypoplasia	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0003241	HP:0003241	External genital hypoplasia	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0003241	HP:0003241	External genital hypoplasia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0003241	HP:0003241	External genital hypoplasia	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0003241	HP:0003241	External genital hypoplasia	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0003241	HP:0003241	External genital hypoplasia	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0003241	HP:0003241	External genital hypoplasia	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0003241	HP:0003241	External genital hypoplasia	0	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0003241	HP:0003241	External genital hypoplasia	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0003241	HP:0003241	External genital hypoplasia	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome		98
HP:0003241	HP:0003241	External genital hypoplasia	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0003241	HP:0003241	External genital hypoplasia	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome		173
HP:0003241	HP:0003241	External genital hypoplasia	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0003241	HP:0003241	External genital hypoplasia	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0003241	HP:0003241	External genital hypoplasia	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0003241	HP:0003241	External genital hypoplasia	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0003241	HP:0003241	External genital hypoplasia	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0003241	HP:0003241	External genital hypoplasia	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0003241	HP:0003241	External genital hypoplasia	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0003241	HP:0003241	External genital hypoplasia	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0003241	HP:0003241	External genital hypoplasia	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0003241	HP:0003241	External genital hypoplasia	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003241	HP:0003241	External genital hypoplasia	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0003241	HP:0003241	External genital hypoplasia	0	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		15
HP:0003241	HP:0003241	External genital hypoplasia	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0003241	HP:0003241	External genital hypoplasia	0	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		92
HP:0003241	HP:0003241	External genital hypoplasia	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0003241	HP:0003241	External genital hypoplasia	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0003241	HP:0003241	External genital hypoplasia	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0003241	HP:0003241	External genital hypoplasia	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0003241	HP:0003241	External genital hypoplasia	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0003241	HP:0003241	External genital hypoplasia	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0003241	HP:0003241	External genital hypoplasia	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3		80
HP:0003241	HP:0003241	External genital hypoplasia	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0003241	HP:0003241	External genital hypoplasia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa		36
HP:0003241	HP:0003241	External genital hypoplasia	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003241	HP:0003241	External genital hypoplasia	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0003241	HP:0003241	External genital hypoplasia	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0003241	HP:0003241	External genital hypoplasia	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0003241	HP:0003241	External genital hypoplasia	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0003241	HP:0003241	External genital hypoplasia	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0003241	HP:0003241	External genital hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0003241	HP:0003241	External genital hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome		21
HP:0003241	HP:0003241	External genital hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0003241	HP:0003241	External genital hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum		21
HP:0003241	HP:0003241	External genital hypoplasia	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa		86
HP:0003241	HP:0003241	External genital hypoplasia	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0003241	HP:0003241	External genital hypoplasia	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0003241	HP:0003241	External genital hypoplasia	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0003241	HP:0003241	External genital hypoplasia	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0003241	HP:0003241	External genital hypoplasia	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0003241	HP:0003241	External genital hypoplasia	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia		8
HP:0003241	HP:0003241	External genital hypoplasia	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome		8
HP:0003241	HP:0003241	External genital hypoplasia	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0003241	HP:0003241	External genital hypoplasia	0	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0003241	HP:0003241	External genital hypoplasia	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0003241	HP:0003241	External genital hypoplasia	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0003241	HP:0003241	External genital hypoplasia	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0003241	HP:0003241	External genital hypoplasia	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0003241	HP:0003241	External genital hypoplasia	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0003241	HP:0003241	External genital hypoplasia	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0003241	HP:0003241	External genital hypoplasia	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa		30
HP:0003241	HP:0003241	External genital hypoplasia	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	HP:0040283 - Occasional	6
HP:0003241	HP:0003241	External genital hypoplasia	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0003241	HP:0003241	External genital hypoplasia	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa		148
HP:0003241	HP:0003241	External genital hypoplasia	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0003241	HP:0003241	External genital hypoplasia	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0003241	HP:0003241	External genital hypoplasia	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa		48
HP:0003241	HP:0003241	External genital hypoplasia	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19	.	1
HP:0003241	HP:0003241	External genital hypoplasia	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0003241	HP:0003241	External genital hypoplasia	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0003241	HP:0003241	External genital hypoplasia	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa		3
HP:0003241	HP:0003241	External genital hypoplasia	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0003241	HP:0003241	External genital hypoplasia	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome		9
HP:0003241	HP:0003241	External genital hypoplasia	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa		52
HP:0003241	HP:0003241	External genital hypoplasia	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa		4
HP:0003241	HP:0003241	External genital hypoplasia	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa		120
HP:0003241	HP:0003241	External genital hypoplasia	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome		111
HP:0003241	HP:0003241	External genital hypoplasia	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome		111
HP:0003241	HP:0003241	External genital hypoplasia	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	7
HP:0003241	HP:0003241	External genital hypoplasia	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0003241	HP:0003241	External genital hypoplasia	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003241	HP:0003241	External genital hypoplasia	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0003241	HP:0003241	External genital hypoplasia	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0003241	HP:0003241	External genital hypoplasia	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0003241	HP:0003241	External genital hypoplasia	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0003241	HP:0003241	External genital hypoplasia	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0003241	HP:0003241	External genital hypoplasia	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0003241	HP:0003241	External genital hypoplasia	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0003241	HP:0003241	External genital hypoplasia	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0003241	HP:0003241	External genital hypoplasia	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0003241	HP:0003241	External genital hypoplasia	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0003241	HP:0003241	External genital hypoplasia	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0003241	HP:0003241	External genital hypoplasia	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0003241	HP:0003241	External genital hypoplasia	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0003241	HP:0003241	External genital hypoplasia	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0003241	HP:0003241	External genital hypoplasia	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0003241	HP:0003241	External genital hypoplasia	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0003241	HP:0003241	External genital hypoplasia	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0003241	HP:0003241	External genital hypoplasia	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0003241	HP:0003241	External genital hypoplasia	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0003241	HP:0003241	External genital hypoplasia	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa		3
HP:0003241	HP:0003241	External genital hypoplasia	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0003241	HP:0003241	External genital hypoplasia	0	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		3
HP:0003241	HP:0003241	External genital hypoplasia	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0003241	HP:0003241	External genital hypoplasia	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0003241	HP:0003241	External genital hypoplasia	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0003241	HP:0003241	External genital hypoplasia	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa		42
HP:0003241	HP:0003241	External genital hypoplasia	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0003241	HP:0003241	External genital hypoplasia	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0003241	HP:0003241	External genital hypoplasia	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0003241	HP:0003241	External genital hypoplasia	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0003241	HP:0003241	External genital hypoplasia	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0003241	HP:0003241	External genital hypoplasia	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0003241	HP:0003241	External genital hypoplasia	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0003241	HP:0003241	External genital hypoplasia	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0003241	HP:0003241	External genital hypoplasia	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0003241	HP:0003241	External genital hypoplasia	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0003241	HP:0003241	External genital hypoplasia	0	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male		67
HP:0003241	HP:0003241	External genital hypoplasia	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0003241	HP:0003241	External genital hypoplasia	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0003241	HP:0003241	External genital hypoplasia	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome		88
HP:0003241	HP:0003241	External genital hypoplasia	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0003241	HP:0003241	External genital hypoplasia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0003241	HP:0003241	External genital hypoplasia	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0003241	HP:0003241	External genital hypoplasia	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0003241	HP:0003241	External genital hypoplasia	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0003241	HP:0003241	External genital hypoplasia	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa		62
HP:0003241	HP:0003241	External genital hypoplasia	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0003241	HP:0003241	External genital hypoplasia	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0003241	HP:0003241	External genital hypoplasia	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0003241	HP:0003241	External genital hypoplasia	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0003241	HP:0003241	External genital hypoplasia	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0003241	HP:0003241	External genital hypoplasia	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0003241	HP:0003241	External genital hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0003241	HP:0003241	External genital hypoplasia	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0003241	HP:0003241	External genital hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare	63
HP:0003241	HP:0003241	External genital hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0003241	HP:0003241	External genital hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0003241	HP:0003241	External genital hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0003241	HP:0003241	External genital hypoplasia	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0003241	HP:0003241	External genital hypoplasia	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa		53
HP:0003241	HP:0003241	External genital hypoplasia	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0003241	HP:0003241	External genital hypoplasia	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0003241	HP:0003241	External genital hypoplasia	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0003241	HP:0003241	External genital hypoplasia	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0003241	HP:0003241	External genital hypoplasia	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0003241	HP:0003241	External genital hypoplasia	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0003241	HP:0003241	External genital hypoplasia	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome		252
HP:0003241	HP:0003241	External genital hypoplasia	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0003241	HP:0003241	External genital hypoplasia	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0003241	HP:0003241	External genital hypoplasia	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0003241	HP:0003241	External genital hypoplasia	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0003241	HP:0003241	External genital hypoplasia	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0003241	HP:0003241	External genital hypoplasia	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0003241	HP:0003241	External genital hypoplasia	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent	13
HP:0003241	HP:0003241	External genital hypoplasia	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0003241	HP:0003241	External genital hypoplasia	0	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0003241	HP:0003241	External genital hypoplasia	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa		75
HP:0003241	HP:0003241	External genital hypoplasia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0003241	HP:0003241	External genital hypoplasia	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0003241	HP:0003241	External genital hypoplasia	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome		69
HP:0003241	HP:0003241	External genital hypoplasia	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6	.	69
HP:0003241	HP:0003241	External genital hypoplasia	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0003241	HP:0003241	External genital hypoplasia	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome		127
HP:0003241	HP:0003241	External genital hypoplasia	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0003241	HP:0003241	External genital hypoplasia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0003241	HP:0003241	External genital hypoplasia	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0003241	HP:0003241	External genital hypoplasia	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040282 - Frequent	37
HP:0003241	HP:0003241	External genital hypoplasia	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		185
HP:0003241	HP:0003241	External genital hypoplasia	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0003241	HP:0003241	External genital hypoplasia	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0003241	HP:0003241	External genital hypoplasia	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0003241	HP:0003241	External genital hypoplasia	0	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		4
HP:0003241	HP:0003241	External genital hypoplasia	0	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation		4
HP:0003241	HP:0003241	External genital hypoplasia	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0003241	HP:0003241	External genital hypoplasia	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare
HP:0003241	HP:0003241	External genital hypoplasia	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0003241	HP:0003241	External genital hypoplasia	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0003241	HP:0003241	External genital hypoplasia	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0003241	HP:0003241	External genital hypoplasia	0	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0003241	HP:0003241	External genital hypoplasia	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0003241	HP:0003241	External genital hypoplasia	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0003241	HP:0003241	External genital hypoplasia	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0003241	HP:0003241	External genital hypoplasia	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0003241	HP:0003241	External genital hypoplasia	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0003241	HP:0003241	External genital hypoplasia	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa		5
HP:0003241	HP:0003241	External genital hypoplasia	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0003241	HP:0003241	External genital hypoplasia	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0003241	HP:0003241	External genital hypoplasia	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0003241	HP:0003241	External genital hypoplasia	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0003241	HP:0003241	External genital hypoplasia	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome		85
HP:0003241	HP:0003241	External genital hypoplasia	0	NR0B1 CL E G H	190	7960	ORPHA:393	46,XX testicular disorder of sex development		48
HP:0003241	HP:0003241	External genital hypoplasia	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0003241	HP:0003241	External genital hypoplasia	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa		58
HP:0003241	HP:0003241	External genital hypoplasia	0	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development		38
HP:0003241	HP:0003241	External genital hypoplasia	0	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0003241	HP:0003241	External genital hypoplasia	0	NR5A1 CL E G H	2516	7983	ORPHA:393	46,XX testicular disorder of sex development		38
HP:0003241	HP:0003241	External genital hypoplasia	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0003241	HP:0003241	External genital hypoplasia	0	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		38
HP:0003241	HP:0003241	External genital hypoplasia	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa		30
HP:0003241	HP:0003241	External genital hypoplasia	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0003241	HP:0003241	External genital hypoplasia	0	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia		6
HP:0003241	HP:0003241	External genital hypoplasia	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0003241	HP:0003241	External genital hypoplasia	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0003241	HP:0003241	External genital hypoplasia	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0003241	HP:0003241	External genital hypoplasia	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0003241	HP:0003241	External genital hypoplasia	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0003241	HP:0003241	External genital hypoplasia	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa		201
HP:0003241	HP:0003241	External genital hypoplasia	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0003241	HP:0003241	External genital hypoplasia	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0003241	HP:0003241	External genital hypoplasia	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0003241	HP:0003241	External genital hypoplasia	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0003241	HP:0003241	External genital hypoplasia	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0003241	HP:0003241	External genital hypoplasia	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0003241	HP:0003241	External genital hypoplasia	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0003241	HP:0003241	External genital hypoplasia	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0003241	HP:0003241	External genital hypoplasia	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0003241	HP:0003241	External genital hypoplasia	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003241	HP:0003241	External genital hypoplasia	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0003241	HP:0003241	External genital hypoplasia	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0003241	HP:0003241	External genital hypoplasia	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5		41
HP:0003241	HP:0003241	External genital hypoplasia	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum		41
HP:0003241	HP:0003241	External genital hypoplasia	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome		231
HP:0003241	HP:0003241	External genital hypoplasia	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		3
HP:0003241	HP:0003241	External genital hypoplasia	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0003241	HP:0003241	External genital hypoplasia	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa		116
HP:0003241	HP:0003241	External genital hypoplasia	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa		126
HP:0003241	HP:0003241	External genital hypoplasia	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa		18
HP:0003241	HP:0003241	External genital hypoplasia	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	169
HP:0003241	HP:0003241	External genital hypoplasia	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	98
HP:0003241	HP:0003241	External genital hypoplasia	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome		2
HP:0003241	HP:0003241	External genital hypoplasia	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0003241	HP:0003241	External genital hypoplasia	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0003241	HP:0003241	External genital hypoplasia	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type		23
HP:0003241	HP:0003241	External genital hypoplasia	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency		37
HP:0003241	HP:0003241	External genital hypoplasia	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0003241	HP:0003241	External genital hypoplasia	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0003241	HP:0003241	External genital hypoplasia	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0003241	HP:0003241	External genital hypoplasia	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0003241	HP:0003241	External genital hypoplasia	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0003241	HP:0003241	External genital hypoplasia	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0003241	HP:0003241	External genital hypoplasia	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0003241	HP:0003241	External genital hypoplasia	0	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0003241	HP:0003241	External genital hypoplasia	0	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0003241	HP:0003241	External genital hypoplasia	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0003241	HP:0003241	External genital hypoplasia	0	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome		103
HP:0003241	HP:0003241	External genital hypoplasia	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome		103
HP:0003241	HP:0003241	External genital hypoplasia	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0003241	HP:0003241	External genital hypoplasia	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type		2
HP:0003241	HP:0003241	External genital hypoplasia	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0003241	HP:0003241	External genital hypoplasia	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0003241	HP:0003241	External genital hypoplasia	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0003241	HP:0003241	External genital hypoplasia	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa		180
HP:0003241	HP:0003241	External genital hypoplasia	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0003241	HP:0003241	External genital hypoplasia	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0003241	HP:0003241	External genital hypoplasia	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0003241	HP:0003241	External genital hypoplasia	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0003241	HP:0003241	External genital hypoplasia	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0003241	HP:0003241	External genital hypoplasia	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0003241	HP:0003241	External genital hypoplasia	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0003241	HP:0003241	External genital hypoplasia	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0003241	HP:0003241	External genital hypoplasia	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2		221
HP:0003241	HP:0003241	External genital hypoplasia	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0003241	HP:0003241	External genital hypoplasia	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0003241	HP:0003241	External genital hypoplasia	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0003241	HP:0003241	External genital hypoplasia	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0003241	HP:0003241	External genital hypoplasia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0003241	HP:0003241	External genital hypoplasia	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0003241	HP:0003241	External genital hypoplasia	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0003241	HP:0003241	External genital hypoplasia	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0003241	HP:0003241	External genital hypoplasia	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0003241	HP:0003241	External genital hypoplasia	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type		28
HP:0003241	HP:0003241	External genital hypoplasia	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa		39
HP:0003241	HP:0003241	External genital hypoplasia	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0003241	HP:0003241	External genital hypoplasia	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0003241	HP:0003241	External genital hypoplasia	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0003241	HP:0003241	External genital hypoplasia	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia		9
HP:0003241	HP:0003241	External genital hypoplasia	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome		9
HP:0003241	HP:0003241	External genital hypoplasia	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0003241	HP:0003241	External genital hypoplasia	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0003241	HP:0003241	External genital hypoplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome		34
HP:0003241	HP:0003241	External genital hypoplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0003241	HP:0003241	External genital hypoplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0003241	HP:0003241	External genital hypoplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum		34
HP:0003241	HP:0003241	External genital hypoplasia	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa		110
HP:0003241	HP:0003241	External genital hypoplasia	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0003241	HP:0003241	External genital hypoplasia	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0003241	HP:0003241	External genital hypoplasia	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa		28
HP:0003241	HP:0003241	External genital hypoplasia	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa		70
HP:0003241	HP:0003241	External genital hypoplasia	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa		2
HP:0003241	HP:0003241	External genital hypoplasia	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa		51
HP:0003241	HP:0003241	External genital hypoplasia	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa		94
HP:0003241	HP:0003241	External genital hypoplasia	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa		159
HP:0003241	HP:0003241	External genital hypoplasia	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0003241	HP:0003241	External genital hypoplasia	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0003241	HP:0003241	External genital hypoplasia	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0003241	HP:0003241	External genital hypoplasia	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0003241	HP:0003241	External genital hypoplasia	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional	6
HP:0003241	HP:0003241	External genital hypoplasia	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0003241	HP:0003241	External genital hypoplasia	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0003241	HP:0003241	External genital hypoplasia	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0003241	HP:0003241	External genital hypoplasia	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent	31
HP:0003241	HP:0003241	External genital hypoplasia	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0003241	HP:0003241	External genital hypoplasia	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0003241	HP:0003241	External genital hypoplasia	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.	90
HP:0003241	HP:0003241	External genital hypoplasia	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0003241	HP:0003241	External genital hypoplasia	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0003241	HP:0003241	External genital hypoplasia	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0003241	HP:0003241	External genital hypoplasia	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0003241	HP:0003241	External genital hypoplasia	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0003241	HP:0003241	External genital hypoplasia	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.	391
HP:0003241	HP:0003241	External genital hypoplasia	0	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0003241	External genital hypoplasia	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa		108
HP:0003241	HP:0003241	External genital hypoplasia	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa		45
HP:0003241	HP:0003241	External genital hypoplasia	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa		5
HP:0003241	HP:0003241	External genital hypoplasia	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0003241	HP:0003241	External genital hypoplasia	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa		28
HP:0003241	HP:0003241	External genital hypoplasia	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa		107
HP:0003241	HP:0003241	External genital hypoplasia	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome		69
HP:0003241	HP:0003241	External genital hypoplasia	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0003241	HP:0003241	External genital hypoplasia	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa		47
HP:0003241	HP:0003241	External genital hypoplasia	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0003241	HP:0003241	External genital hypoplasia	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0003241	HP:0003241	External genital hypoplasia	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0003241	HP:0003241	External genital hypoplasia	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0003241	HP:0003241	External genital hypoplasia	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0003241	HP:0003241	External genital hypoplasia	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0003241	HP:0003241	External genital hypoplasia	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003241	HP:0003241	External genital hypoplasia	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0003241	HP:0003241	External genital hypoplasia	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa		38
HP:0003241	HP:0003241	External genital hypoplasia	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0003241	HP:0003241	External genital hypoplasia	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0003241	HP:0003241	External genital hypoplasia	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003241	HP:0003241	External genital hypoplasia	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa		111
HP:0003241	HP:0003241	External genital hypoplasia	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa		284
HP:0003241	HP:0003241	External genital hypoplasia	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa		45
HP:0003241	HP:0003241	External genital hypoplasia	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa		14
HP:0003241	HP:0003241	External genital hypoplasia	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa		129
HP:0003241	HP:0003241	External genital hypoplasia	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa		200
HP:0003241	HP:0003241	External genital hypoplasia	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0003241	HP:0003241	External genital hypoplasia	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0003241	HP:0003241	External genital hypoplasia	0	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0003241	HP:0003241	External genital hypoplasia	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0003241	HP:0003241	External genital hypoplasia	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0003241	HP:0003241	External genital hypoplasia	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003241	HP:0003241	External genital hypoplasia	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0003241	HP:0003241	External genital hypoplasia	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0003241	HP:0003241	External genital hypoplasia	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa		32
HP:0003241	HP:0003241	External genital hypoplasia	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0003241	HP:0003241	External genital hypoplasia	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0003241	HP:0003241	External genital hypoplasia	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0003241	HP:0003241	External genital hypoplasia	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome		34
HP:0003241	HP:0003241	External genital hypoplasia	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0003241	HP:0003241	External genital hypoplasia	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis		80
HP:0003241	HP:0003241	External genital hypoplasia	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0003241	HP:0003241	External genital hypoplasia	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0003241	HP:0003241	External genital hypoplasia	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0003241	HP:0003241	External genital hypoplasia	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome		61
HP:0003241	HP:0003241	External genital hypoplasia	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.	61
HP:0003241	HP:0003241	External genital hypoplasia	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0003241	HP:0003241	External genital hypoplasia	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome		14
HP:0003241	HP:0003241	External genital hypoplasia	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0003241	HP:0003241	External genital hypoplasia	0	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		16
HP:0003241	HP:0003241	External genital hypoplasia	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa		48
HP:0003241	HP:0003241	External genital hypoplasia	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0003241	HP:0003241	External genital hypoplasia	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0003241	HP:0003241	External genital hypoplasia	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0003241	HP:0003241	External genital hypoplasia	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0003241	HP:0003241	External genital hypoplasia	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0003241	HP:0003241	External genital hypoplasia	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	67
HP:0003241	HP:0003241	External genital hypoplasia	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0003241	HP:0003241	External genital hypoplasia	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0003241	HP:0003241	External genital hypoplasia	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0003241	HP:0003241	External genital hypoplasia	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0003241	HP:0003241	External genital hypoplasia	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0003241	HP:0003241	External genital hypoplasia	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0003241	HP:0003241	External genital hypoplasia	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0003241	HP:0003241	External genital hypoplasia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0003241	HP:0003241	External genital hypoplasia	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0003241	HP:0003241	External genital hypoplasia	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0003241	HP:0003241	External genital hypoplasia	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa		4
HP:0003241	HP:0003241	External genital hypoplasia	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0003241	HP:0003241	External genital hypoplasia	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0003241	HP:0003241	External genital hypoplasia	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0003241	HP:0003241	External genital hypoplasia	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0003241	HP:0003241	External genital hypoplasia	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0003241	HP:0003241	External genital hypoplasia	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0003241	HP:0003241	External genital hypoplasia	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	174
HP:0003241	HP:0003241	External genital hypoplasia	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0003241	HP:0003241	External genital hypoplasia	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa		83
HP:0003241	HP:0003241	External genital hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare	37
HP:0003241	HP:0003241	External genital hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0003241	HP:0003241	External genital hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0003241	HP:0003241	External genital hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0003241	HP:0003241	External genital hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent	37
HP:0003241	HP:0003241	External genital hypoplasia	0	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		3
HP:0003241	HP:0003241	External genital hypoplasia	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome		61
HP:0003241	HP:0003241	External genital hypoplasia	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome		33
HP:0003241	HP:0003241	External genital hypoplasia	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0003241	HP:0003241	External genital hypoplasia	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum		33
HP:0003241	HP:0003241	External genital hypoplasia	0	SOX3 CL E G H	6658	11199	ORPHA:393	46,XX testicular disorder of sex development		24
HP:0003241	HP:0003241	External genital hypoplasia	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0003241	HP:0003241	External genital hypoplasia	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum		24
HP:0003241	HP:0003241	External genital hypoplasia	0	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development		109
HP:0003241	HP:0003241	External genital hypoplasia	0	SOX9 CL E G H	6662	11204	ORPHA:393	46,XX testicular disorder of sex development		109
HP:0003241	HP:0003241	External genital hypoplasia	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0003241	HP:0003241	External genital hypoplasia	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa		48
HP:0003241	HP:0003241	External genital hypoplasia	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0003241	HP:0003241	External genital hypoplasia	0	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		5
HP:0003241	HP:0003241	External genital hypoplasia	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome		5
HP:0003241	HP:0003241	External genital hypoplasia	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0003241	HP:0003241	External genital hypoplasia	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003241	HP:0003241	External genital hypoplasia	0	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0003241	HP:0003241	External genital hypoplasia	0	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency		86
HP:0003241	HP:0003241	External genital hypoplasia	0	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0003241	HP:0003241	External genital hypoplasia	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0003241	HP:0003241	External genital hypoplasia	0	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development		23
HP:0003241	HP:0003241	External genital hypoplasia	0	SRY CL E G H	6736	11311	ORPHA:393	46,XX testicular disorder of sex development		23
HP:0003241	HP:0003241	External genital hypoplasia	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0003241	HP:0003241	External genital hypoplasia	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		9
HP:0003241	HP:0003241	External genital hypoplasia	0	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG		21
HP:0003241	HP:0003241	External genital hypoplasia	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix		18
HP:0003241	HP:0003241	External genital hypoplasia	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG		18
HP:0003241	HP:0003241	External genital hypoplasia	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0003241	HP:0003241	External genital hypoplasia	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0003241	HP:0003241	External genital hypoplasia	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		4
HP:0003241	HP:0003241	External genital hypoplasia	0	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		12
HP:0003241	HP:0003241	External genital hypoplasia	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0003241	HP:0003241	External genital hypoplasia	0	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia		34
HP:0003241	HP:0003241	External genital hypoplasia	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome		34
HP:0003241	HP:0003241	External genital hypoplasia	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0003241	HP:0003241	External genital hypoplasia	0	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0003241	HP:0003241	External genital hypoplasia	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0003241	HP:0003241	External genital hypoplasia	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0003241	HP:0003241	External genital hypoplasia	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0003241	HP:0003241	External genital hypoplasia	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0003241	HP:0003241	External genital hypoplasia	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0003241	HP:0003241	External genital hypoplasia	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0003241	HP:0003241	External genital hypoplasia	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0003241	HP:0003241	External genital hypoplasia	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0003241	HP:0003241	External genital hypoplasia	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0003241	HP:0003241	External genital hypoplasia	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0003241	HP:0003241	External genital hypoplasia	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0003241	HP:0003241	External genital hypoplasia	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0003241	HP:0003241	External genital hypoplasia	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0003241	HP:0003241	External genital hypoplasia	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0003241	HP:0003241	External genital hypoplasia	0	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0003241	HP:0003241	External genital hypoplasia	0	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		5
HP:0003241	HP:0003241	External genital hypoplasia	0	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0003241	HP:0003241	External genital hypoplasia	0	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0003241	HP:0003241	External genital hypoplasia	0	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25		1
HP:0003241	HP:0003241	External genital hypoplasia	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0003241	HP:0003241	External genital hypoplasia	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0003241	HP:0003241	External genital hypoplasia	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0003241	HP:0003241	External genital hypoplasia	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0003241	HP:0003241	External genital hypoplasia	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0003241	HP:0003241	External genital hypoplasia	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0003241	HP:0003241	External genital hypoplasia	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0003241	HP:0003241	External genital hypoplasia	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa		61
HP:0003241	HP:0003241	External genital hypoplasia	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0003241	HP:0003241	External genital hypoplasia	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0003241	HP:0003241	External genital hypoplasia	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0003241	HP:0003241	External genital hypoplasia	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0003241	HP:0003241	External genital hypoplasia	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0003241	HP:0003241	External genital hypoplasia	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome		108
HP:0003241	HP:0003241	External genital hypoplasia	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0003241	HP:0003241	External genital hypoplasia	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0003241	HP:0003241	External genital hypoplasia	0	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0003241	External genital hypoplasia	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome		1
HP:0003241	HP:0003241	External genital hypoplasia	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome		41
HP:0003241	HP:0003241	External genital hypoplasia	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa		41
HP:0003241	HP:0003241	External genital hypoplasia	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa		1
HP:0003241	HP:0003241	External genital hypoplasia	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0003241	HP:0003241	External genital hypoplasia	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa		66
HP:0003241	HP:0003241	External genital hypoplasia	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0003241	HP:0003241	External genital hypoplasia	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0003241	HP:0003241	External genital hypoplasia	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0003241	HP:0003241	External genital hypoplasia	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0003241	HP:0003241	External genital hypoplasia	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0003241	HP:0003241	External genital hypoplasia	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0003241	HP:0003241	External genital hypoplasia	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0003241	HP:0003241	External genital hypoplasia	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0003241	HP:0003241	External genital hypoplasia	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0003241	HP:0003241	External genital hypoplasia	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0003241	HP:0003241	External genital hypoplasia	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0003241	HP:0003241	External genital hypoplasia	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa		777
HP:0003241	HP:0003241	External genital hypoplasia	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome		2
HP:0003241	HP:0003241	External genital hypoplasia	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0003241	HP:0003241	External genital hypoplasia	0	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion		2
HP:0003241	HP:0003241	External genital hypoplasia	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0003241	HP:0003241	External genital hypoplasia	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0003241	HP:0003241	External genital hypoplasia	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003241	HP:0003241	External genital hypoplasia	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0003241	HP:0003241	External genital hypoplasia	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome		60
HP:0003241	HP:0003241	External genital hypoplasia	0	WDR11 CL E G H	55717	13831	OMIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia		10
HP:0003241	HP:0003241	External genital hypoplasia	0	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		10
HP:0003241	HP:0003241	External genital hypoplasia	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome		10
HP:0003241	HP:0003241	External genital hypoplasia	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0003241	HP:0003241	External genital hypoplasia	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0003241	HP:0003241	External genital hypoplasia	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0003241	HP:0003241	External genital hypoplasia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0003241	HP:0003241	External genital hypoplasia	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0003241	HP:0003241	External genital hypoplasia	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0003241	HP:0003241	External genital hypoplasia	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0003241	HP:0003241	External genital hypoplasia	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0003241	HP:0003241	External genital hypoplasia	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0003241	HP:0003241	External genital hypoplasia	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0003241	HP:0003241	External genital hypoplasia	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0003241	HP:0003241	External genital hypoplasia	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0003241	HP:0003241	External genital hypoplasia	0	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		125
HP:0003241	HP:0003241	External genital hypoplasia	0	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0003241	HP:0003241	External genital hypoplasia	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0003241	HP:0003241	External genital hypoplasia	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0003241	HP:0003241	External genital hypoplasia	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome		14
HP:0003241	HP:0003241	External genital hypoplasia	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0003241	HP:0003241	External genital hypoplasia	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0003241	HP:0003241	External genital hypoplasia	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0003241	HP:0003241	External genital hypoplasia	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0003241	HP:0003241	External genital hypoplasia	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0003241	HP:0003241	External genital hypoplasia	0	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0003241	HP:0003241	External genital hypoplasia	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa		14
HP:0003241	HP:0003241	External genital hypoplasia	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa		27
HP:0003241	HP:0003241	External genital hypoplasia	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa		826
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa		175
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome		132
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa		6
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa		29
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia		166
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa		114
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa		97
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5		25
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa		182
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa		23
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa		147
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome		114
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15		90
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa		71
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1371
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa		60
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa		44
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa		164
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa		156
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa		158
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1		145
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa		47
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome		8
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome		102
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa		209
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa		56
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		107
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28		107
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia		17
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome		17
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome		172
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum		172
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome		30
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa		26
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome		98
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome		173
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		15
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		92
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3		80
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa		36
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome		21
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum		21
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa		86
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia		8
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome		8
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa		30
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome		6
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa		148
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa		48
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa		52
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa		120
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome		111
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome		111
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa		42
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male		67
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome		88
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa		62
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa		53
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome		252
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa		75
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome		69
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome		127
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		185
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040284 - Very rare	101
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome		85
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NR0B1 CL E G H	190	7960	ORPHA:393	46,XX testicular disorder of sex development		48
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa		58
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development		38
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NR5A1 CL E G H	2516	7983	ORPHA:393	46,XX testicular disorder of sex development		38
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		38
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa		30
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia		6
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa		201
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5		41
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum		41
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome		231
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa		116
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa		126
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa		18
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type		23
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency		37
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome		103
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome		103
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa		180
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2		221
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type		28
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa		39
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa		110
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa		28
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa		70
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa		51
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa		94
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa		159
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa		108
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa		45
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa		28
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa		107
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent	69
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa		47
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa		38
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa		111
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa		284
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa		45
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa		14
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa		129
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa		200
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa		32
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis		80
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome		61
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome		14
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		16
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa		48
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa		4
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa		83
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		3
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome		61
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome		33
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum		33
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SOX3 CL E G H	6658	11199	ORPHA:393	46,XX testicular disorder of sex development		24
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum		24
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development		109
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SOX9 CL E G H	6662	11204	ORPHA:393	46,XX testicular disorder of sex development		109
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa		48
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency		86
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development		23
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SRY CL E G H	6736	11311	ORPHA:393	46,XX testicular disorder of sex development		23
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG		21
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix		18
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG		18
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		4
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		12
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa		61
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome		108
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome		41
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa		41
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa		66
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa		777
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome		60
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WDR11 CL E G H	55717	13831	OMIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia		10
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		10
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome		10
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0003241	HP:0012815	Hypoplastic female external genitalia	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		125
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome		14
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa		14
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa		27
HP:0003241	HP:0000050	Hypoplastic male external genitalia	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0003241	HP:0008736	Hypoplasia of penis	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	826
HP:0003241	HP:0008736	Hypoplasia of penis	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0003241	HP:0008736	Hypoplasia of penis	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0003241	HP:0000066	Labial hypoplasia	2	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0003241	HP:0008736	Hypoplasia of penis	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0003241	HP:0008736	Hypoplasia of penis	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0003241	HP:0008736	Hypoplasia of penis	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	175
HP:0003241	HP:0008736	Hypoplasia of penis	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0003241	HP:0008736	Hypoplasia of penis	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0003241	HP:0000046	Small scrotum	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0003241	HP:0008736	Hypoplasia of penis	2	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0003241	HP:0008736	Hypoplasia of penis	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0003241	HP:0008734	Decreased testicular size	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0003241	HP:0000046	Small scrotum	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0003241	HP:0008736	Hypoplasia of penis	2	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome		132
HP:0003241	HP:0008736	Hypoplasia of penis	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040281 - Very frequent	150
HP:0003241	HP:0000046	Small scrotum	2	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0003241	HP:0008734	Decreased testicular size	2	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0003241	HP:0008736	Hypoplasia of penis	2	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0003241	HP:0008736	Hypoplasia of penis	2	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	65
HP:0003241	HP:0008734	Decreased testicular size	2	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	65
HP:0003241	HP:0000066	Labial hypoplasia	2	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0003241	HP:0008736	Hypoplasia of penis	2	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0003241	HP:0008736	Hypoplasia of penis	2	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0003241	HP:0008736	Hypoplasia of penis	2	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0003241	HP:0000046	Small scrotum	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	6
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	29
HP:0003241	HP:0008734	Decreased testicular size	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	29
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0003241	HP:0008734	Decreased testicular size	2	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0003241	HP:0008736	Hypoplasia of penis	2	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040281 - Very frequent	166
HP:0003241	HP:0008736	Hypoplasia of penis	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0003241	HP:0008736	Hypoplasia of penis	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0003241	HP:0008736	Hypoplasia of penis	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0003241	HP:0008736	Hypoplasia of penis	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0003241	HP:0008734	Decreased testicular size	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0003241	HP:0000046	Small scrotum	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0003241	HP:0008736	Hypoplasia of penis	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0003241	HP:0008736	Hypoplasia of penis	2	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0003241	HP:0008734	Decreased testicular size	2	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0003241	HP:0008736	Hypoplasia of penis	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0003241	HP:0000060	Clitoral hypoplasia	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0003241	HP:0000060	Clitoral hypoplasia	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0003241	HP:0000066	Labial hypoplasia	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0003241	HP:0008736	Hypoplasia of penis	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0003241	HP:0008734	Decreased testicular size	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	HP:0040283 - Occasional	17
HP:0003241	HP:0008736	Hypoplasia of penis	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0003241	HP:0008736	Hypoplasia of penis	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0003241	HP:0008736	Hypoplasia of penis	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	114
HP:0003241	HP:0008734	Decreased testicular size	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	114
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	118
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	71
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	97
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	97
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	87
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	25
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5		25
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	66
HP:0003241	HP:0008736	Hypoplasia of penis	2	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	119
HP:0003241	HP:0008736	Hypoplasia of penis	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	182
HP:0003241	HP:0000046	Small scrotum	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0003241	HP:0008736	Hypoplasia of penis	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0003241	HP:0000046	Small scrotum	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0003241	HP:0008734	Decreased testicular size	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0003241	HP:0008736	Hypoplasia of penis	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0003241	HP:0000066	Labial hypoplasia	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0003241	HP:0008736	Hypoplasia of penis	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008734	Decreased testicular size	2	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0003241	HP:0008736	Hypoplasia of penis	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	23
HP:0003241	HP:0008736	Hypoplasia of penis	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0003241	HP:0008736	Hypoplasia of penis	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0003241	HP:0008736	Hypoplasia of penis	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0003241	HP:0008734	Decreased testicular size	2	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0003241	HP:0008736	Hypoplasia of penis	2	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0003241	HP:0008736	Hypoplasia of penis	2	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0003241	HP:0008734	Decreased testicular size	2	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0003241	HP:0008734	Decreased testicular size	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0003241	HP:0008734	Decreased testicular size	2	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0003241	HP:0000066	Labial hypoplasia	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0003241	HP:0000066	Labial hypoplasia	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0003241	HP:0000066	Labial hypoplasia	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0003241	HP:0000060	Clitoral hypoplasia	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0003241	HP:0000060	Clitoral hypoplasia	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0003241	HP:0000066	Labial hypoplasia	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	147
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0003241	HP:0008734	Decreased testicular size	2	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	HP:0040281 - Very frequent	114
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	200
HP:0003241	HP:0000066	Labial hypoplasia	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0003241	HP:0000060	Clitoral hypoplasia	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0003241	HP:0008736	Hypoplasia of penis	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0003241	HP:0008736	Hypoplasia of penis	2	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0003241	HP:0008736	Hypoplasia of penis	2	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	342
HP:0003241	HP:0008736	Hypoplasia of penis	2	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15		90
HP:0003241	HP:0008736	Hypoplasia of penis	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	71
HP:0003241	HP:0008736	Hypoplasia of penis	2	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0003241	HP:0008734	Decreased testicular size	2	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1371
HP:0003241	HP:0008736	Hypoplasia of penis	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0003241	HP:0008736	Hypoplasia of penis	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0003241	HP:0008736	Hypoplasia of penis	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0003241	HP:0000066	Labial hypoplasia	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0003241	HP:0000066	Labial hypoplasia	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0003241	HP:0008734	Decreased testicular size	2	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	515
HP:0003241	HP:0008736	Hypoplasia of penis	2	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	515
HP:0003241	HP:0008736	Hypoplasia of penis	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0003241	HP:0008734	Decreased testicular size	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0003241	HP:0008734	Decreased testicular size	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040282 - Frequent	4
HP:0003241	HP:0000046	Small scrotum	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0003241	HP:0008736	Hypoplasia of penis	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0003241	HP:0008736	Hypoplasia of penis	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0003241	HP:0000046	Small scrotum	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0003241	HP:0008736	Hypoplasia of penis	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	60
HP:0003241	HP:0008736	Hypoplasia of penis	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	44
HP:0003241	HP:0008736	Hypoplasia of penis	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	164
HP:0003241	HP:0008736	Hypoplasia of penis	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0003241	HP:0008736	Hypoplasia of penis	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0003241	HP:0008736	Hypoplasia of penis	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0003241	HP:0008736	Hypoplasia of penis	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0003241	HP:0008736	Hypoplasia of penis	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0003241	HP:0008736	Hypoplasia of penis	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	156
HP:0003241	HP:0008736	Hypoplasia of penis	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	158
HP:0003241	HP:0000066	Labial hypoplasia	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0003241	HP:0008734	Decreased testicular size	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	HP:0040283 - Occasional	17
HP:0003241	HP:0008736	Hypoplasia of penis	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0003241	HP:0008734	Decreased testicular size	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0003241	HP:0008736	Hypoplasia of penis	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0003241	HP:0008734	Decreased testicular size	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0003241	HP:0008736	Hypoplasia of penis	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0003241	HP:0008734	Decreased testicular size	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0003241	HP:0008736	Hypoplasia of penis	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0003241	HP:0008734	Decreased testicular size	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040282 - Frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0003241	HP:0008734	Decreased testicular size	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0003241	HP:0008734	Decreased testicular size	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0003241	HP:0008734	Decreased testicular size	2	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0003241	HP:0008736	Hypoplasia of penis	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0003241	HP:0008734	Decreased testicular size	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040282 - Frequent	53
HP:0003241	HP:0008736	Hypoplasia of penis	2	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0003241	HP:0008736	Hypoplasia of penis	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0003241	HP:0008734	Decreased testicular size	2	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003241	HP:0008734	Decreased testicular size	2	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003241	HP:0008734	Decreased testicular size	2	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003241	HP:0008734	Decreased testicular size	2	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003241	HP:0008734	Decreased testicular size	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0003241	HP:0008734	Decreased testicular size	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0003241	HP:0008736	Hypoplasia of penis	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0003241	HP:0008736	Hypoplasia of penis	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0003241	HP:0008734	Decreased testicular size	2	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	36
HP:0003241	HP:0008736	Hypoplasia of penis	2	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	36
HP:0003241	HP:0008736	Hypoplasia of penis	2	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1		145
HP:0003241	HP:0008734	Decreased testicular size	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0003241	HP:0008734	Decreased testicular size	2	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0003241	HP:0008736	Hypoplasia of penis	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0003241	HP:0000046	Small scrotum	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0003241	HP:0008736	Hypoplasia of penis	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0003241	HP:0008736	Hypoplasia of penis	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0003241	HP:0008736	Hypoplasia of penis	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0003241	HP:0008736	Hypoplasia of penis	2	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0003241	HP:0008734	Decreased testicular size	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0003241	HP:0008734	Decreased testicular size	2	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome	HP:0040281 - Very frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome	HP:0040281 - Very frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0003241	HP:0008736	Hypoplasia of penis	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0003241	HP:0008734	Decreased testicular size	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0003241	HP:0008736	Hypoplasia of penis	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0003241	HP:0008734	Decreased testicular size	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0003241	HP:0008734	Decreased testicular size	2	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0003241	HP:0008734	Decreased testicular size	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0003241	HP:0008736	Hypoplasia of penis	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional	25
HP:0003241	HP:0008736	Hypoplasia of penis	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0003241	HP:0008736	Hypoplasia of penis	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0003241	HP:0008736	Hypoplasia of penis	2	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		4
HP:0003241	HP:0008734	Decreased testicular size	2	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0003241	HP:0008734	Decreased testicular size	2	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0003241	HP:0008734	Decreased testicular size	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0003241	HP:0000066	Labial hypoplasia	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0003241	HP:0008736	Hypoplasia of penis	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	14
HP:0003241	HP:0000060	Clitoral hypoplasia	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0003241	HP:0000066	Labial hypoplasia	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0003241	HP:0000060	Clitoral hypoplasia	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0003241	HP:0008736	Hypoplasia of penis	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0003241	HP:0008736	Hypoplasia of penis	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0003241	HP:0000066	Labial hypoplasia	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0003241	HP:0008736	Hypoplasia of penis	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	5
HP:0003241	HP:0000060	Clitoral hypoplasia	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0003241	HP:0008736	Hypoplasia of penis	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0003241	HP:0000060	Clitoral hypoplasia	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0003241	HP:0008736	Hypoplasia of penis	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0003241	HP:0008736	Hypoplasia of penis	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0003241	HP:0008736	Hypoplasia of penis	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0003241	HP:0008736	Hypoplasia of penis	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0003241	HP:0008736	Hypoplasia of penis	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0003241	HP:0008736	Hypoplasia of penis	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0003241	HP:0000066	Labial hypoplasia	2	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0003241	HP:0008736	Hypoplasia of penis	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0003241	HP:0008736	Hypoplasia of penis	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0003241	HP:0008736	Hypoplasia of penis	2	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent	8
HP:0003241	HP:0008736	Hypoplasia of penis	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0003241	HP:0008736	Hypoplasia of penis	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0003241	HP:0008736	Hypoplasia of penis	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0003241	HP:0000046	Small scrotum	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0003241	HP:0008736	Hypoplasia of penis	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0003241	HP:0008734	Decreased testicular size	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0003241	HP:0008734	Decreased testicular size	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0003241	HP:0008734	Decreased testicular size	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0003241	HP:0008734	Decreased testicular size	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0003241	HP:0008736	Hypoplasia of penis	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0003241	HP:0008736	Hypoplasia of penis	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0003241	HP:0000066	Labial hypoplasia	2	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0003241	HP:0008736	Hypoplasia of penis	2	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome		102
HP:0003241	HP:0008736	Hypoplasia of penis	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	209
HP:0003241	HP:0008736	Hypoplasia of penis	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	81
HP:0003241	HP:0008734	Decreased testicular size	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0003241	HP:0008736	Hypoplasia of penis	2	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0003241	HP:0008736	Hypoplasia of penis	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	56
HP:0003241	HP:0008736	Hypoplasia of penis	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0003241	HP:0008736	Hypoplasia of penis	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0003241	HP:0008736	Hypoplasia of penis	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0003241	HP:0008736	Hypoplasia of penis	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0003241	HP:0008734	Decreased testicular size	2	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	107
HP:0003241	HP:0008734	Decreased testicular size	2	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0003241	HP:0000046	Small scrotum	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003241	HP:0008736	Hypoplasia of penis	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0003241	HP:0008734	Decreased testicular size	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0003241	HP:0008734	Decreased testicular size	2	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia	.	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia		2
HP:0003241	HP:0008734	Decreased testicular size	2	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		2
HP:0003241	HP:0008736	Hypoplasia of penis	2	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	2
HP:0003241	HP:0008734	Decreased testicular size	2	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		3
HP:0003241	HP:0008734	Decreased testicular size	2	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	3
HP:0003241	HP:0008734	Decreased testicular size	2	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	3
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	3
HP:0003241	HP:0008734	Decreased testicular size	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia		17
HP:0003241	HP:0008734	Decreased testicular size	2	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	17
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	17
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0003241	HP:0008734	Decreased testicular size	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0003241	HP:0008734	Decreased testicular size	2	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	172
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	172
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0003241	HP:0008734	Decreased testicular size	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0003241	HP:0008736	Hypoplasia of penis	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	172
HP:0003241	HP:0000066	Labial hypoplasia	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0003241	HP:0000066	Labial hypoplasia	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0003241	HP:0008736	Hypoplasia of penis	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0003241	HP:0000066	Labial hypoplasia	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0003241	HP:0008736	Hypoplasia of penis	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0003241	HP:0008736	Hypoplasia of penis	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0003241	HP:0008736	Hypoplasia of penis	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0003241	HP:0008736	Hypoplasia of penis	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0003241	HP:0008736	Hypoplasia of penis	2	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0003241	HP:0008734	Decreased testicular size	2	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0003241	HP:0008734	Decreased testicular size	2	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent	30
HP:0003241	HP:0008734	Decreased testicular size	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0003241	HP:0008736	Hypoplasia of penis	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0003241	HP:0000046	Small scrotum	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0003241	HP:0008736	Hypoplasia of penis	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0003241	HP:0000046	Small scrotum	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0003241	HP:0008736	Hypoplasia of penis	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0003241	HP:0008736	Hypoplasia of penis	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	26
HP:0003241	HP:0008734	Decreased testicular size	2	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia	.	23
HP:0003241	HP:0008734	Decreased testicular size	2	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent	23
HP:0003241	HP:0008736	Hypoplasia of penis	2	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040282 - Frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent
HP:0003241	HP:0000060	Clitoral hypoplasia	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0003241	HP:0000066	Labial hypoplasia	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0003241	HP:0008736	Hypoplasia of penis	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0003241	HP:0000066	Labial hypoplasia	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0003241	HP:0008736	Hypoplasia of penis	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0003241	HP:0008734	Decreased testicular size	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0003241	HP:0008736	Hypoplasia of penis	2	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0003241	HP:0008734	Decreased testicular size	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0003241	HP:0008736	Hypoplasia of penis	2	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040282 - Frequent	98
HP:0003241	HP:0008734	Decreased testicular size	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0003241	HP:0008736	Hypoplasia of penis	2	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome		173
HP:0003241	HP:0008736	Hypoplasia of penis	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0003241	HP:0008736	Hypoplasia of penis	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0003241	HP:0008736	Hypoplasia of penis	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0003241	HP:0000046	Small scrotum	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0003241	HP:0008734	Decreased testicular size	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0003241	HP:0008736	Hypoplasia of penis	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0003241	HP:0008734	Decreased testicular size	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.	270
HP:0003241	HP:0008736	Hypoplasia of penis	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0003241	HP:0000066	Labial hypoplasia	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0003241	HP:0000060	Clitoral hypoplasia	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0003241	HP:0008736	Hypoplasia of penis	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0003241	HP:0000066	Labial hypoplasia	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0003241	HP:0008736	Hypoplasia of penis	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0003241	HP:0008736	Hypoplasia of penis	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0003241	HP:0008736	Hypoplasia of penis	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003241	HP:0008736	Hypoplasia of penis	2	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0003241	HP:0008734	Decreased testicular size	2	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0003241	HP:0008734	Decreased testicular size	2	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	15
HP:0003241	HP:0008736	Hypoplasia of penis	2	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		15
HP:0003241	HP:0008736	Hypoplasia of penis	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0003241	HP:0008734	Decreased testicular size	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0003241	HP:0008734	Decreased testicular size	2	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	92
HP:0003241	HP:0008736	Hypoplasia of penis	2	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		92
HP:0003241	HP:0008736	Hypoplasia of penis	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0003241	HP:0008734	Decreased testicular size	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0003241	HP:0008736	Hypoplasia of penis	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0003241	HP:0008736	Hypoplasia of penis	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0003241	HP:0008736	Hypoplasia of penis	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0003241	HP:0000046	Small scrotum	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0003241	HP:0008736	Hypoplasia of penis	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0003241	HP:0000046	Small scrotum	2	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.	80
HP:0003241	HP:0008736	Hypoplasia of penis	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0003241	HP:0008736	Hypoplasia of penis	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	36
HP:0003241	HP:0008736	Hypoplasia of penis	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003241	HP:0008736	Hypoplasia of penis	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0003241	HP:0000066	Labial hypoplasia	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0003241	HP:0008736	Hypoplasia of penis	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0003241	HP:0008736	Hypoplasia of penis	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0003241	HP:0008734	Decreased testicular size	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0003241	HP:0008736	Hypoplasia of penis	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0003241	HP:0008736	Hypoplasia of penis	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0003241	HP:0000046	Small scrotum	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0003241	HP:0000066	Labial hypoplasia	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0003241	HP:0000060	Clitoral hypoplasia	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0003241	HP:0008734	Decreased testicular size	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0003241	HP:0008734	Decreased testicular size	2	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	21
HP:0003241	HP:0008736	Hypoplasia of penis	2	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	21
HP:0003241	HP:0008736	Hypoplasia of penis	2	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	21
HP:0003241	HP:0008736	Hypoplasia of penis	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	21
HP:0003241	HP:0008736	Hypoplasia of penis	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	86
HP:0003241	HP:0008736	Hypoplasia of penis	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0003241	HP:0008736	Hypoplasia of penis	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0003241	HP:0008736	Hypoplasia of penis	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0003241	HP:0000066	Labial hypoplasia	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0003241	HP:0008736	Hypoplasia of penis	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0003241	HP:0008736	Hypoplasia of penis	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0003241	HP:0008734	Decreased testicular size	2	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia	.	8
HP:0003241	HP:0008736	Hypoplasia of penis	2	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia		8
HP:0003241	HP:0008734	Decreased testicular size	2	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	8
HP:0003241	HP:0008736	Hypoplasia of penis	2	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	8
HP:0003241	HP:0008734	Decreased testicular size	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0003241	HP:0008736	Hypoplasia of penis	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0003241	HP:0008736	Hypoplasia of penis	2	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0003241	HP:0008734	Decreased testicular size	2	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0003241	HP:0008736	Hypoplasia of penis	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0003241	HP:0008734	Decreased testicular size	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0003241	HP:0008734	Decreased testicular size	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0003241	HP:0008736	Hypoplasia of penis	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0003241	HP:0008736	Hypoplasia of penis	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0003241	HP:0000046	Small scrotum	2	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	HP:0040283 - Occasional	6
HP:0003241	HP:0008736	Hypoplasia of penis	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0003241	HP:0008736	Hypoplasia of penis	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	148
HP:0003241	HP:0008736	Hypoplasia of penis	2	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	48
HP:0003241	HP:0008736	Hypoplasia of penis	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0003241	HP:0008736	Hypoplasia of penis	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0003241	HP:0008736	Hypoplasia of penis	2	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	3
HP:0003241	HP:0008736	Hypoplasia of penis	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0003241	HP:0008736	Hypoplasia of penis	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0003241	HP:0008736	Hypoplasia of penis	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0003241	HP:0008734	Decreased testicular size	2	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0003241	HP:0008736	Hypoplasia of penis	2	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0003241	HP:0008736	Hypoplasia of penis	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	52
HP:0003241	HP:0008736	Hypoplasia of penis	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	120
HP:0003241	HP:0008736	Hypoplasia of penis	2	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome		111
HP:0003241	HP:0008736	Hypoplasia of penis	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome		111
HP:0003241	HP:0008736	Hypoplasia of penis	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0003241	HP:0008736	Hypoplasia of penis	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003241	HP:0000046	Small scrotum	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000060	Clitoral hypoplasia	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000066	Labial hypoplasia	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000066	Labial hypoplasia	2	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0003241	HP:0000046	Small scrotum	2	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99
HP:0003241	HP:0000046	Small scrotum	2	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0003241	HP:0000066	Labial hypoplasia	2	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0003241	HP:0008736	Hypoplasia of penis	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0003241	HP:0000046	Small scrotum	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0003241	HP:0000046	Small scrotum	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0003241	HP:0008736	Hypoplasia of penis	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0003241	HP:0008736	Hypoplasia of penis	2	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0003241	HP:0008736	Hypoplasia of penis	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0003241	HP:0008736	Hypoplasia of penis	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0003241	HP:0008734	Decreased testicular size	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0003241	HP:0008734	Decreased testicular size	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0003241	HP:0008736	Hypoplasia of penis	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0003241	HP:0008734	Decreased testicular size	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0003241	HP:0008736	Hypoplasia of penis	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0003241	HP:0008736	Hypoplasia of penis	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0003241	HP:0008736	Hypoplasia of penis	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0003241	HP:0008736	Hypoplasia of penis	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0003241	HP:0008736	Hypoplasia of penis	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0003241	HP:0008736	Hypoplasia of penis	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0003241	HP:0008734	Decreased testicular size	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0003241	HP:0008734	Decreased testicular size	2	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0003241	HP:0008736	Hypoplasia of penis	2	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0003241	HP:0008736	Hypoplasia of penis	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0003241	HP:0008734	Decreased testicular size	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0003241	HP:0008736	Hypoplasia of penis	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0003241	HP:0008736	Hypoplasia of penis	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0003241	HP:0008734	Decreased testicular size	2	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0003241	HP:0008736	Hypoplasia of penis	2	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0003241	HP:0008736	Hypoplasia of penis	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0003241	HP:0008736	Hypoplasia of penis	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0003241	HP:0008736	Hypoplasia of penis	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	42
HP:0003241	HP:0008736	Hypoplasia of penis	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0003241	HP:0008736	Hypoplasia of penis	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0003241	HP:0008736	Hypoplasia of penis	2	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0003241	HP:0008736	Hypoplasia of penis	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0003241	HP:0008736	Hypoplasia of penis	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0003241	HP:0008736	Hypoplasia of penis	2	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0003241	HP:0008734	Decreased testicular size	2	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0003241	HP:0008734	Decreased testicular size	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0003241	HP:0008734	Decreased testicular size	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0003241	HP:0008736	Hypoplasia of penis	2	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0003241	HP:0008734	Decreased testicular size	2	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male	.	67
HP:0003241	HP:0008734	Decreased testicular size	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0003241	HP:0008736	Hypoplasia of penis	2	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	43
HP:0003241	HP:0008736	Hypoplasia of penis	2	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome		88
HP:0003241	HP:0008736	Hypoplasia of penis	2	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	88
HP:0003241	HP:0008736	Hypoplasia of penis	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0003241	HP:0008736	Hypoplasia of penis	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0003241	HP:0008736	Hypoplasia of penis	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0003241	HP:0000046	Small scrotum	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0003241	HP:0008736	Hypoplasia of penis	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	62
HP:0003241	HP:0008736	Hypoplasia of penis	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0003241	HP:0008736	Hypoplasia of penis	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0003241	HP:0008736	Hypoplasia of penis	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0003241	HP:0008736	Hypoplasia of penis	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0003241	HP:0008736	Hypoplasia of penis	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0003241	HP:0008734	Decreased testicular size	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0003241	HP:0000060	Clitoral hypoplasia	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0003241	HP:0000046	Small scrotum	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0003241	HP:0000066	Labial hypoplasia	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0003241	HP:0000066	Labial hypoplasia	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0003241	HP:0008736	Hypoplasia of penis	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0003241	HP:0000060	Clitoral hypoplasia	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0003241	HP:0000046	Small scrotum	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0003241	HP:0000060	Clitoral hypoplasia	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0003241	HP:0000046	Small scrotum	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0003241	HP:0000066	Labial hypoplasia	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0003241	HP:0008734	Decreased testicular size	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0003241	HP:0000046	Small scrotum	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0003241	HP:0008734	Decreased testicular size	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0003241	HP:0000060	Clitoral hypoplasia	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0003241	HP:0000066	Labial hypoplasia	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0003241	HP:0000066	Labial hypoplasia	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0003241	HP:0000046	Small scrotum	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0003241	HP:0008734	Decreased testicular size	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0003241	HP:0000060	Clitoral hypoplasia	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0003241	HP:0008736	Hypoplasia of penis	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0003241	HP:0008736	Hypoplasia of penis	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	53
HP:0003241	HP:0008736	Hypoplasia of penis	2	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0003241	HP:0008736	Hypoplasia of penis	2	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0003241	HP:0008734	Decreased testicular size	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0003241	HP:0008736	Hypoplasia of penis	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0003241	HP:0008734	Decreased testicular size	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0003241	HP:0000046	Small scrotum	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0003241	HP:0000046	Small scrotum	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040283 - Occasional	252
HP:0003241	HP:0008736	Hypoplasia of penis	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0003241	HP:0008734	Decreased testicular size	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0003241	HP:0008734	Decreased testicular size	2	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10	.	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0003241	HP:0008736	Hypoplasia of penis	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0003241	HP:0000046	Small scrotum	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.	228
HP:0003241	HP:0008736	Hypoplasia of penis	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0003241	HP:0008734	Decreased testicular size	2	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	75
HP:0003241	HP:0008736	Hypoplasia of penis	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0003241	HP:0008736	Hypoplasia of penis	2	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0003241	HP:0008736	Hypoplasia of penis	2	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	69
HP:0003241	HP:0008736	Hypoplasia of penis	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0003241	HP:0000046	Small scrotum	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0003241	HP:0000060	Clitoral hypoplasia	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0003241	HP:0000066	Labial hypoplasia	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0003241	HP:0000066	Labial hypoplasia	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000060	Clitoral hypoplasia	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000046	Small scrotum	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	127
HP:0003241	HP:0008736	Hypoplasia of penis	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0003241	HP:0008736	Hypoplasia of penis	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040283 - Occasional	17
HP:0003241	HP:0008736	Hypoplasia of penis	2	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		185
HP:0003241	HP:0008736	Hypoplasia of penis	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0003241	HP:0000046	Small scrotum	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0003241	HP:0008736	Hypoplasia of penis	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0003241	HP:0008734	Decreased testicular size	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0003241	HP:0008734	Decreased testicular size	2	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0003241	HP:0008734	Decreased testicular size	2	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0003241	HP:0000046	Small scrotum	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0003241	HP:0000066	Labial hypoplasia	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0003241	HP:0000060	Clitoral hypoplasia	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0003241	HP:0008734	Decreased testicular size	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0003241	HP:0000046	Small scrotum	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0003241	HP:0000060	Clitoral hypoplasia	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0003241	HP:0008734	Decreased testicular size	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0003241	HP:0000066	Labial hypoplasia	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0003241	HP:0008734	Decreased testicular size	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0003241	HP:0000046	Small scrotum	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0003241	HP:0000066	Labial hypoplasia	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0003241	HP:0000060	Clitoral hypoplasia	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0003241	HP:0008734	Decreased testicular size	2	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0003241	HP:0008736	Hypoplasia of penis	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0003241	HP:0000046	Small scrotum	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0003241	HP:0008736	Hypoplasia of penis	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0003241	HP:0008736	Hypoplasia of penis	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0003241	HP:0000066	Labial hypoplasia	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0003241	HP:0008736	Hypoplasia of penis	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0003241	HP:0000066	Labial hypoplasia	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0003241	HP:0008736	Hypoplasia of penis	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0003241	HP:0000046	Small scrotum	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0003241	HP:0000066	Labial hypoplasia	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0003241	HP:0008736	Hypoplasia of penis	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0003241	HP:0000060	Clitoral hypoplasia	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0003241	HP:0008736	Hypoplasia of penis	2	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	85
HP:0003241	HP:0008734	Decreased testicular size	2	NR0B1 CL E G H	190	7960	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	48
HP:0003241	HP:0008734	Decreased testicular size	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0003241	HP:0008736	Hypoplasia of penis	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0003241	HP:0008736	Hypoplasia of penis	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	58
HP:0003241	HP:0000046	Small scrotum	2	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	38
HP:0003241	HP:0008736	Hypoplasia of penis	2	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	38
HP:0003241	HP:0008736	Hypoplasia of penis	2	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0003241	HP:0008734	Decreased testicular size	2	NR5A1 CL E G H	2516	7983	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	38
HP:0003241	HP:0008734	Decreased testicular size	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0003241	HP:0008736	Hypoplasia of penis	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0003241	HP:0008734	Decreased testicular size	2	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	38
HP:0003241	HP:0008736	Hypoplasia of penis	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0003241	HP:0008736	Hypoplasia of penis	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	544
HP:0003241	HP:0008734	Decreased testicular size	2	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia	.	6
HP:0003241	HP:0008736	Hypoplasia of penis	2	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia		6
HP:0003241	HP:0008736	Hypoplasia of penis	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0003241	HP:0008734	Decreased testicular size	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0003241	HP:0008736	Hypoplasia of penis	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	2
HP:0003241	HP:0000060	Clitoral hypoplasia	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0003241	HP:0000066	Labial hypoplasia	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0003241	HP:0008734	Decreased testicular size	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0003241	HP:0000046	Small scrotum	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0003241	HP:0000060	Clitoral hypoplasia	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0003241	HP:0000046	Small scrotum	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0003241	HP:0008734	Decreased testicular size	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0003241	HP:0000066	Labial hypoplasia	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0003241	HP:0000066	Labial hypoplasia	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0003241	HP:0000046	Small scrotum	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0003241	HP:0008734	Decreased testicular size	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0003241	HP:0000060	Clitoral hypoplasia	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0003241	HP:0008736	Hypoplasia of penis	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	201
HP:0003241	HP:0008736	Hypoplasia of penis	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0003241	HP:0008734	Decreased testicular size	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0003241	HP:0008736	Hypoplasia of penis	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0003241	HP:0000046	Small scrotum	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0003241	HP:0000060	Clitoral hypoplasia	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0003241	HP:0000066	Labial hypoplasia	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0003241	HP:0008736	Hypoplasia of penis	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0003241	HP:0008736	Hypoplasia of penis	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0003241	HP:0000066	Labial hypoplasia	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0003241	HP:0000060	Clitoral hypoplasia	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0003241	HP:0008736	Hypoplasia of penis	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0003241	HP:0000066	Labial hypoplasia	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0003241	HP:0000066	Labial hypoplasia	2	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0003241	HP:0008736	Hypoplasia of penis	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0003241	HP:0000066	Labial hypoplasia	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0003241	HP:0000060	Clitoral hypoplasia	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0003241	HP:0000066	Labial hypoplasia	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0003241	HP:0008736	Hypoplasia of penis	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0003241	HP:0000046	Small scrotum	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0003241	HP:0008736	Hypoplasia of penis	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003241	HP:0008736	Hypoplasia of penis	2	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0003241	HP:0008734	Decreased testicular size	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0003241	HP:0008736	Hypoplasia of penis	2	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5		41
HP:0003241	HP:0008736	Hypoplasia of penis	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	41
HP:0003241	HP:0008736	Hypoplasia of penis	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	231
HP:0003241	HP:0008736	Hypoplasia of penis	2	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		3
HP:0003241	HP:0008736	Hypoplasia of penis	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	116
HP:0003241	HP:0008736	Hypoplasia of penis	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	126
HP:0003241	HP:0008736	Hypoplasia of penis	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	18
HP:0003241	HP:0008736	Hypoplasia of penis	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome		2
HP:0003241	HP:0008734	Decreased testicular size	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0003241	HP:0008736	Hypoplasia of penis	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0003241	HP:0000046	Small scrotum	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0003241	HP:0008736	Hypoplasia of penis	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0003241	HP:0008734	Decreased testicular size	2	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040282 - Frequent	23
HP:0003241	HP:0008734	Decreased testicular size	2	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.	37
HP:0003241	HP:0008736	Hypoplasia of penis	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0003241	HP:0008736	Hypoplasia of penis	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0003241	HP:0008736	Hypoplasia of penis	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0003241	HP:0008736	Hypoplasia of penis	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0003241	HP:0008736	Hypoplasia of penis	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0003241	HP:0008734	Decreased testicular size	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0003241	HP:0008736	Hypoplasia of penis	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0003241	HP:0008734	Decreased testicular size	2	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0003241	HP:0008734	Decreased testicular size	2	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0003241	HP:0008736	Hypoplasia of penis	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040282 - Frequent	103
HP:0003241	HP:0000046	Small scrotum	2	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.	103
HP:0003241	HP:0008736	Hypoplasia of penis	2	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome		103
HP:0003241	HP:0008736	Hypoplasia of penis	2	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.	103
HP:0003241	HP:0000060	Clitoral hypoplasia	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	HP:0040283 - Occasional	10
HP:0003241	HP:0008734	Decreased testicular size	2	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0003241	HP:0008736	Hypoplasia of penis	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0003241	HP:0000046	Small scrotum	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0003241	HP:0000046	Small scrotum	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0003241	HP:0008736	Hypoplasia of penis	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0003241	HP:0008736	Hypoplasia of penis	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0003241	HP:0000046	Small scrotum	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0003241	HP:0008736	Hypoplasia of penis	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	180
HP:0003241	HP:0008736	Hypoplasia of penis	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0003241	HP:0008736	Hypoplasia of penis	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0003241	HP:0008736	Hypoplasia of penis	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0003241	HP:0008736	Hypoplasia of penis	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0003241	HP:0008736	Hypoplasia of penis	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0003241	HP:0008736	Hypoplasia of penis	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0003241	HP:0008736	Hypoplasia of penis	2	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2		221
HP:0003241	HP:0008736	Hypoplasia of penis	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0003241	HP:0000066	Labial hypoplasia	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0003241	HP:0008736	Hypoplasia of penis	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0003241	HP:0000046	Small scrotum	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0003241	HP:0000066	Labial hypoplasia	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0003241	HP:0008736	Hypoplasia of penis	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0003241	HP:0000060	Clitoral hypoplasia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0003241	HP:0000066	Labial hypoplasia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0003241	HP:0008734	Decreased testicular size	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0003241	HP:0008736	Hypoplasia of penis	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0003241	HP:0000066	Labial hypoplasia	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0003241	HP:0000060	Clitoral hypoplasia	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0003241	HP:0008734	Decreased testicular size	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0003241	HP:0008734	Decreased testicular size	2	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040282 - Frequent	28
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	39
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0003241	HP:0008736	Hypoplasia of penis	2	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia		9
HP:0003241	HP:0008734	Decreased testicular size	2	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	.	9
HP:0003241	HP:0008736	Hypoplasia of penis	2	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0003241	HP:0008734	Decreased testicular size	2	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0003241	HP:0008734	Decreased testicular size	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0003241	HP:0008736	Hypoplasia of penis	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0003241	HP:0008736	Hypoplasia of penis	2	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0003241	HP:0008734	Decreased testicular size	2	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0003241	HP:0008736	Hypoplasia of penis	2	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0003241	HP:0008736	Hypoplasia of penis	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0003241	HP:0008734	Decreased testicular size	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0003241	HP:0008736	Hypoplasia of penis	2	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	34
HP:0003241	HP:0008736	Hypoplasia of penis	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	34
HP:0003241	HP:0008736	Hypoplasia of penis	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	110
HP:0003241	HP:0008734	Decreased testicular size	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0003241	HP:0008734	Decreased testicular size	2	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	70
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	51
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	94
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	159
HP:0003241	HP:0008736	Hypoplasia of penis	2	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0003241	HP:0008736	Hypoplasia of penis	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0003241	HP:0008736	Hypoplasia of penis	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0003241	HP:0008736	Hypoplasia of penis	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0003241	HP:0008736	Hypoplasia of penis	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000060	Clitoral hypoplasia	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000046	Small scrotum	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000066	Labial hypoplasia	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000060	Clitoral hypoplasia	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000046	Small scrotum	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000066	Labial hypoplasia	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0003241	HP:0000060	Clitoral hypoplasia	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0003241	HP:0000066	Labial hypoplasia	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0003241	HP:0008734	Decreased testicular size	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0003241	HP:0000046	Small scrotum	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0003241	HP:0000066	Labial hypoplasia	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0003241	HP:0008736	Hypoplasia of penis	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0003241	HP:0008736	Hypoplasia of penis	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0003241	HP:0000060	Clitoral hypoplasia	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0003241	HP:0000066	Labial hypoplasia	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0003241	HP:0008736	Hypoplasia of penis	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0003241	HP:0000066	Labial hypoplasia	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0003241	HP:0008736	Hypoplasia of penis	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0003241	HP:0000060	Clitoral hypoplasia	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0003241	HP:0008736	Hypoplasia of penis	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0003241	HP:0000046	Small scrotum	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0003241	HP:0000066	Labial hypoplasia	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0003241	HP:0008736	Hypoplasia of penis	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0003241	HP:0000066	Labial hypoplasia	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0003241	HP:0008734	Decreased testicular size	2	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	108
HP:0003241	HP:0008736	Hypoplasia of penis	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0003241	HP:0008736	Hypoplasia of penis	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0003241	HP:0008736	Hypoplasia of penis	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0003241	HP:0008736	Hypoplasia of penis	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0003241	HP:0008736	Hypoplasia of penis	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	107
HP:0003241	HP:0000066	Labial hypoplasia	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0003241	HP:0008736	Hypoplasia of penis	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0003241	HP:0008736	Hypoplasia of penis	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0003241	HP:0008734	Decreased testicular size	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0003241	HP:0008736	Hypoplasia of penis	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0003241	HP:0008736	Hypoplasia of penis	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0003241	HP:0008736	Hypoplasia of penis	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0003241	HP:0008736	Hypoplasia of penis	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0003241	HP:0008736	Hypoplasia of penis	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0003241	HP:0008736	Hypoplasia of penis	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0003241	HP:0008736	Hypoplasia of penis	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003241	HP:0008736	Hypoplasia of penis	2	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	7
HP:0003241	HP:0008736	Hypoplasia of penis	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	38
HP:0003241	HP:0008736	Hypoplasia of penis	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	120
HP:0003241	HP:0008736	Hypoplasia of penis	2	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0003241	HP:0000066	Labial hypoplasia	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003241	HP:0008736	Hypoplasia of penis	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003241	HP:0000060	Clitoral hypoplasia	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0003241	HP:0008736	Hypoplasia of penis	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	111
HP:0003241	HP:0008736	Hypoplasia of penis	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	284
HP:0003241	HP:0008736	Hypoplasia of penis	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0003241	HP:0008736	Hypoplasia of penis	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0003241	HP:0008736	Hypoplasia of penis	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0003241	HP:0008736	Hypoplasia of penis	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	200
HP:0003241	HP:0008734	Decreased testicular size	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0003241	HP:0008734	Decreased testicular size	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0003241	HP:0008734	Decreased testicular size	2	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0003241	HP:0008734	Decreased testicular size	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0003241	HP:0008736	Hypoplasia of penis	2	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0003241	HP:0008736	Hypoplasia of penis	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0003241	HP:0008736	Hypoplasia of penis	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0003241	HP:0000046	Small scrotum	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0003241	HP:0008736	Hypoplasia of penis	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0003241	HP:0008736	Hypoplasia of penis	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	32
HP:0003241	HP:0008736	Hypoplasia of penis	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0003241	HP:0008734	Decreased testicular size	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0003241	HP:0008736	Hypoplasia of penis	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0003241	HP:0008736	Hypoplasia of penis	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0003241	HP:0008734	Decreased testicular size	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0003241	HP:0008736	Hypoplasia of penis	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0003241	HP:0008734	Decreased testicular size	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent	34
HP:0003241	HP:0008736	Hypoplasia of penis	2	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040281 - Very frequent	80
HP:0003241	HP:0008736	Hypoplasia of penis	2	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0003241	HP:0008736	Hypoplasia of penis	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0003241	HP:0008736	Hypoplasia of penis	2	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	61
HP:0003241	HP:0008736	Hypoplasia of penis	2	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0003241	HP:0008734	Decreased testicular size	2	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	.	14
HP:0003241	HP:0008736	Hypoplasia of penis	2	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	14
HP:0003241	HP:0008734	Decreased testicular size	2	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	14
HP:0003241	HP:0000066	Labial hypoplasia	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0003241	HP:0008736	Hypoplasia of penis	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0003241	HP:0008736	Hypoplasia of penis	2	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		16
HP:0003241	HP:0008734	Decreased testicular size	2	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	16
HP:0003241	HP:0008736	Hypoplasia of penis	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0003241	HP:0000046	Small scrotum	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0003241	HP:0000066	Labial hypoplasia	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0003241	HP:0008736	Hypoplasia of penis	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0003241	HP:0008736	Hypoplasia of penis	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0003241	HP:0008736	Hypoplasia of penis	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0003241	HP:0008736	Hypoplasia of penis	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0003241	HP:0008736	Hypoplasia of penis	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0003241	HP:0000060	Clitoral hypoplasia	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0003241	HP:0000066	Labial hypoplasia	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0003241	HP:0008736	Hypoplasia of penis	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0003241	HP:0000046	Small scrotum	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0003241	HP:0008734	Decreased testicular size	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0003241	HP:0008736	Hypoplasia of penis	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0003241	HP:0008736	Hypoplasia of penis	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0003241	HP:0008736	Hypoplasia of penis	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0003241	HP:0008736	Hypoplasia of penis	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0003241	HP:0008736	Hypoplasia of penis	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0003241	HP:0008736	Hypoplasia of penis	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0003241	HP:0000046	Small scrotum	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0003241	HP:0000066	Labial hypoplasia	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003241	HP:0008734	Decreased testicular size	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040281 - Very frequent	68
HP:0003241	HP:0008736	Hypoplasia of penis	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0003241	HP:0008736	Hypoplasia of penis	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0003241	HP:0008734	Decreased testicular size	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0003241	HP:0008736	Hypoplasia of penis	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0003241	HP:0000066	Labial hypoplasia	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0003241	HP:0000046	Small scrotum	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0003241	HP:0008736	Hypoplasia of penis	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0003241	HP:0000066	Labial hypoplasia	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0003241	HP:0008736	Hypoplasia of penis	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0003241	HP:0000066	Labial hypoplasia	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0003241	HP:0008736	Hypoplasia of penis	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0003241	HP:0000066	Labial hypoplasia	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0003241	HP:0008736	Hypoplasia of penis	2	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	174
HP:0003241	HP:0008736	Hypoplasia of penis	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0003241	HP:0000060	Clitoral hypoplasia	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000066	Labial hypoplasia	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000046	Small scrotum	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000046	Small scrotum	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000060	Clitoral hypoplasia	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000066	Labial hypoplasia	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0008736	Hypoplasia of penis	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	83
HP:0003241	HP:0000066	Labial hypoplasia	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0003241	HP:0008734	Decreased testicular size	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0003241	HP:0000046	Small scrotum	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0003241	HP:0000060	Clitoral hypoplasia	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0003241	HP:0000066	Labial hypoplasia	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0003241	HP:0000060	Clitoral hypoplasia	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0003241	HP:0008734	Decreased testicular size	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0003241	HP:0000046	Small scrotum	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0003241	HP:0000060	Clitoral hypoplasia	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0003241	HP:0008734	Decreased testicular size	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0003241	HP:0000066	Labial hypoplasia	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0003241	HP:0000046	Small scrotum	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0003241	HP:0008734	Decreased testicular size	2	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0003241	HP:0008736	Hypoplasia of penis	2	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	61
HP:0003241	HP:0008734	Decreased testicular size	2	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	61
HP:0003241	HP:0008736	Hypoplasia of penis	2	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional	33
HP:0003241	HP:0008736	Hypoplasia of penis	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0003241	HP:0008736	Hypoplasia of penis	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	33
HP:0003241	HP:0008734	Decreased testicular size	2	SOX3 CL E G H	6658	11199	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	24
HP:0003241	HP:0008734	Decreased testicular size	2	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0003241	HP:0008736	Hypoplasia of penis	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	24
HP:0003241	HP:0000046	Small scrotum	2	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	109
HP:0003241	HP:0008736	Hypoplasia of penis	2	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	109
HP:0003241	HP:0008734	Decreased testicular size	2	SOX9 CL E G H	6662	11204	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	109
HP:0003241	HP:0008734	Decreased testicular size	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0003241	HP:0008736	Hypoplasia of penis	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0003241	HP:0008736	Hypoplasia of penis	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0003241	HP:0008736	Hypoplasia of penis	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0003241	HP:0008736	Hypoplasia of penis	2	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		5
HP:0003241	HP:0008734	Decreased testicular size	2	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	5
HP:0003241	HP:0008736	Hypoplasia of penis	2	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	5
HP:0003241	HP:0008734	Decreased testicular size	2	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	5
HP:0003241	HP:0008734	Decreased testicular size	2	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0003241	HP:0008736	Hypoplasia of penis	2	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0003241	HP:0008736	Hypoplasia of penis	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003241	HP:0008736	Hypoplasia of penis	2	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0003241	HP:0008734	Decreased testicular size	2	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0003241	HP:0000046	Small scrotum	2	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	HP:0040281 - Very frequent	86
HP:0003241	HP:0008736	Hypoplasia of penis	2	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	HP:0040281 - Very frequent	86
HP:0003241	HP:0008736	Hypoplasia of penis	2	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0003241	HP:0008736	Hypoplasia of penis	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0003241	HP:0008736	Hypoplasia of penis	2	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	23
HP:0003241	HP:0000046	Small scrotum	2	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	23
HP:0003241	HP:0008734	Decreased testicular size	2	SRY CL E G H	6736	11311	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	23
HP:0003241	HP:0008736	Hypoplasia of penis	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0003241	HP:0008734	Decreased testicular size	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0003241	HP:0008736	Hypoplasia of penis	2	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG		21
HP:0003241	HP:0000046	Small scrotum	2	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG	HP:0040282 - Frequent	21
HP:0003241	HP:0008736	Hypoplasia of penis	2	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix		18
HP:0003241	HP:0000046	Small scrotum	2	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.	18
HP:0003241	HP:0000046	Small scrotum	2	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040282 - Frequent	18
HP:0003241	HP:0008736	Hypoplasia of penis	2	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG		18
HP:0003241	HP:0008736	Hypoplasia of penis	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0000046	Small scrotum	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0003241	HP:0008736	Hypoplasia of penis	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0003241	HP:0008736	Hypoplasia of penis	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0003241	HP:0008736	Hypoplasia of penis	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	1
HP:0003241	HP:0008734	Decreased testicular size	2	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0003241	HP:0008734	Decreased testicular size	2	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	12
HP:0003241	HP:0008734	Decreased testicular size	2	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0003241	HP:0008736	Hypoplasia of penis	2	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0003241	HP:0008734	Decreased testicular size	2	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia	.	34
HP:0003241	HP:0008736	Hypoplasia of penis	2	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia		34
HP:0003241	HP:0008734	Decreased testicular size	2	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0003241	HP:0008736	Hypoplasia of penis	2	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0003241	HP:0008734	Decreased testicular size	2	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0003241	HP:0008736	Hypoplasia of penis	2	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0003241	HP:0008734	Decreased testicular size	2	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0003241	HP:0000066	Labial hypoplasia	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0003241	HP:0008736	Hypoplasia of penis	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0003241	HP:0000060	Clitoral hypoplasia	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0003241	HP:0000046	Small scrotum	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0003241	HP:0008734	Decreased testicular size	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0003241	HP:0008736	Hypoplasia of penis	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0003241	HP:0008736	Hypoplasia of penis	2	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0003241	HP:0008736	Hypoplasia of penis	2	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040283 - Occasional	52
HP:0003241	HP:0008736	Hypoplasia of penis	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0003241	HP:0008736	Hypoplasia of penis	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0000046	Small scrotum	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0003241	HP:0008736	Hypoplasia of penis	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0003241	HP:0008736	Hypoplasia of penis	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040282 - Frequent	100
HP:0003241	HP:0008736	Hypoplasia of penis	2	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0003241	HP:0008736	Hypoplasia of penis	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0003241	HP:0008736	Hypoplasia of penis	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0003241	HP:0000046	Small scrotum	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0003241	HP:0008736	Hypoplasia of penis	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0003241	HP:0008734	Decreased testicular size	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0003241	HP:0008736	Hypoplasia of penis	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0003241	HP:0008734	Decreased testicular size	2	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0003241	HP:0008734	Decreased testicular size	2	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	5
HP:0003241	HP:0008734	Decreased testicular size	2	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0003241	HP:0008734	Decreased testicular size	2	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0003241	HP:0008734	Decreased testicular size	2	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25	.	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0003241	HP:0008736	Hypoplasia of penis	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0003241	HP:0008734	Decreased testicular size	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0003241	HP:0008736	Hypoplasia of penis	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0003241	HP:0008736	Hypoplasia of penis	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0003241	HP:0008736	Hypoplasia of penis	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0003241	HP:0008736	Hypoplasia of penis	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0003241	HP:0008736	Hypoplasia of penis	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0003241	HP:0008734	Decreased testicular size	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0003241	HP:0008736	Hypoplasia of penis	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	61
HP:0003241	HP:0008736	Hypoplasia of penis	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0003241	HP:0008736	Hypoplasia of penis	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0003241	HP:0008736	Hypoplasia of penis	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0003241	HP:0000066	Labial hypoplasia	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0003241	HP:0008736	Hypoplasia of penis	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0003241	HP:0008736	Hypoplasia of penis	2	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	108
HP:0003241	HP:0008736	Hypoplasia of penis	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0003241	HP:0008736	Hypoplasia of penis	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0003241	HP:0000046	Small scrotum	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0003241	HP:0008734	Decreased testicular size	2	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003241	HP:0008736	Hypoplasia of penis	2	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040281 - Very frequent	1
HP:0003241	HP:0000046	Small scrotum	2	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040281 - Very frequent	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	41
HP:0003241	HP:0008736	Hypoplasia of penis	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	41
HP:0003241	HP:0008736	Hypoplasia of penis	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0003241	HP:0000046	Small scrotum	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0003241	HP:0008736	Hypoplasia of penis	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	66
HP:0003241	HP:0008736	Hypoplasia of penis	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0003241	HP:0008736	Hypoplasia of penis	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0003241	HP:0000066	Labial hypoplasia	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0003241	HP:0000066	Labial hypoplasia	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0003241	HP:0008734	Decreased testicular size	2	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0003241	HP:0008736	Hypoplasia of penis	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0003241	HP:0008736	Hypoplasia of penis	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0003241	HP:0008736	Hypoplasia of penis	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0003241	HP:0000066	Labial hypoplasia	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0003241	HP:0008736	Hypoplasia of penis	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0003241	HP:0008736	Hypoplasia of penis	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional	25
HP:0003241	HP:0008736	Hypoplasia of penis	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0003241	HP:0008736	Hypoplasia of penis	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	777
HP:0003241	HP:0008736	Hypoplasia of penis	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome		2
HP:0003241	HP:0008736	Hypoplasia of penis	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0003241	HP:0008734	Decreased testicular size	2	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent	2
HP:0003241	HP:0000066	Labial hypoplasia	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0003241	HP:0008736	Hypoplasia of penis	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0003241	HP:0008734	Decreased testicular size	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0003241	HP:0008736	Hypoplasia of penis	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003241	HP:0008736	Hypoplasia of penis	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0003241	HP:0008736	Hypoplasia of penis	2	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	60
HP:0003241	HP:0008734	Decreased testicular size	2	WDR11 CL E G H	55717	13831	OMIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia	HP:0040283 - Occasional	10
HP:0003241	HP:0008736	Hypoplasia of penis	2	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		10
HP:0003241	HP:0008734	Decreased testicular size	2	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	10
HP:0003241	HP:0008736	Hypoplasia of penis	2	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	10
HP:0003241	HP:0008734	Decreased testicular size	2	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	10
HP:0003241	HP:0008734	Decreased testicular size	2	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0003241	HP:0008736	Hypoplasia of penis	2	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0003241	HP:0008736	Hypoplasia of penis	2	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	10
HP:0003241	HP:0008736	Hypoplasia of penis	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0003241	HP:0008736	Hypoplasia of penis	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	98
HP:0003241	HP:0000060	Clitoral hypoplasia	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0003241	HP:0000066	Labial hypoplasia	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0003241	HP:0008736	Hypoplasia of penis	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0003241	HP:0000066	Labial hypoplasia	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0003241	HP:0000060	Clitoral hypoplasia	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0003241	HP:0008736	Hypoplasia of penis	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional	13
HP:0003241	HP:0000046	Small scrotum	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0003241	HP:0008734	Decreased testicular size	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0003241	HP:0008736	Hypoplasia of penis	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0003241	HP:0008736	Hypoplasia of penis	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040282 - Frequent	177
HP:0003241	HP:0008734	Decreased testicular size	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0003241	HP:0008736	Hypoplasia of penis	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0003241	HP:0008734	Decreased testicular size	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	34
HP:0003241	HP:0008734	Decreased testicular size	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	86
HP:0003241	HP:0008734	Decreased testicular size	2	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	125
HP:0003241	HP:0008734	Decreased testicular size	2	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0003241	HP:0008736	Hypoplasia of penis	2	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	9
HP:0003241	HP:0008736	Hypoplasia of penis	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0003241	HP:0008736	Hypoplasia of penis	2	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	14
HP:0003241	HP:0008736	Hypoplasia of penis	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0003241	HP:0008736	Hypoplasia of penis	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0003241	HP:0008736	Hypoplasia of penis	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0003241	HP:0008734	Decreased testicular size	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0003241	HP:0008736	Hypoplasia of penis	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0003241	HP:0008734	Decreased testicular size	2	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0003241	HP:0008736	Hypoplasia of penis	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0003241	HP:0008736	Hypoplasia of penis	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	27
HP:0003241	HP:0008736	Hypoplasia of penis	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0003241	HP:0008734	Decreased testicular size	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0003241	HP:0000054	Micropenis	3	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0003241	HP:0000054	Micropenis	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0003241	HP:0000064	Hypoplastic labia minora	3	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional	72
HP:0003241	HP:0000054	Micropenis	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0003241	HP:0000054	Micropenis	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0003241	HP:0000054	Micropenis	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0003241	HP:0000054	Micropenis	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0003241	HP:0000054	Micropenis	3	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0003241	HP:0000054	Micropenis	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0003241	HP:0000054	Micropenis	3	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	132
HP:0003241	HP:0000054	Micropenis	3	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0003241	HP:0000054	Micropenis	3	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	65
HP:0003241	HP:0000054	Micropenis	3	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	125
HP:0003241	HP:0000054	Micropenis	3	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0003241	HP:0000054	Micropenis	3	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome	.	125
HP:0003241	HP:0000054	Micropenis	3	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0003241	HP:0000054	Micropenis	3	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0003241	HP:0000054	Micropenis	3	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0003241	HP:0000054	Micropenis	3	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0003241	HP:0000054	Micropenis	3	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0003241	HP:0000054	Micropenis	3	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0003241	HP:0000054	Micropenis	3	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0003241	HP:0000054	Micropenis	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0003241	HP:0000054	Micropenis	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0003241	HP:0000054	Micropenis	3	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0003241	HP:0000059	Hypoplastic labia majora	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0003241	HP:0000054	Micropenis	3	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0003241	HP:0000054	Micropenis	3	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0003241	HP:0000054	Micropenis	3	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0003241	HP:0000054	Micropenis	3	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5		25
HP:0003241	HP:0000054	Micropenis	3	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0003241	HP:0000059	Hypoplastic labia majora	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0003241	HP:0000054	Micropenis	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0003241	HP:0000054	Micropenis	3	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0003241	HP:0000054	Micropenis	3	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0003241	HP:0000054	Micropenis	3	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0003241	HP:0000054	Micropenis	3	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0003241	HP:0000054	Micropenis	3	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0003241	HP:0000054	Micropenis	3	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0003241	HP:0000054	Micropenis	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0003241	HP:0000059	Hypoplastic labia majora	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0003241	HP:0000064	Hypoplastic labia minora	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0003241	HP:0000054	Micropenis	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0003241	HP:0000059	Hypoplastic labia majora	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0003241	HP:0000064	Hypoplastic labia minora	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0003241	HP:0000054	Micropenis	3	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0003241	HP:0000054	Micropenis	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0003241	HP:0000054	Micropenis	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0003241	HP:0000054	Micropenis	3	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0003241	HP:0000054	Micropenis	3	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0003241	HP:0030260	Microphallus	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0003241	HP:0000064	Hypoplastic labia minora	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0003241	HP:0000059	Hypoplastic labia majora	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0003241	HP:0000054	Micropenis	3	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0003241	HP:0000054	Micropenis	3	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	.	90
HP:0003241	HP:0000054	Micropenis	3	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0003241	HP:0000054	Micropenis	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0003241	HP:0000054	Micropenis	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0003241	HP:0000054	Micropenis	3	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	515
HP:0003241	HP:0000054	Micropenis	3	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0003241	HP:0030260	Microphallus	3	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0003241	HP:0000054	Micropenis	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0003241	HP:0000054	Micropenis	3	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0003241	HP:0000054	Micropenis	3	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0003241	HP:0000054	Micropenis	3	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0003241	HP:0000059	Hypoplastic labia majora	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0003241	HP:0000054	Micropenis	3	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0003241	HP:0000054	Micropenis	3	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0003241	HP:0000054	Micropenis	3	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	2
HP:0003241	HP:0000054	Micropenis	3	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia	.	2
HP:0003241	HP:0000054	Micropenis	3	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	53
HP:0003241	HP:0000054	Micropenis	3	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0003241	HP:0000054	Micropenis	3	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0003241	HP:0000054	Micropenis	3	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0003241	HP:0000054	Micropenis	3	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	36
HP:0003241	HP:0000054	Micropenis	3	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0003241	HP:0000054	Micropenis	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0003241	HP:0000054	Micropenis	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0003241	HP:0000054	Micropenis	3	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.	47
HP:0003241	HP:0000054	Micropenis	3	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0003241	HP:0000054	Micropenis	3	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0003241	HP:0000054	Micropenis	3	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0003241	HP:0000054	Micropenis	3	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0003241	HP:0000054	Micropenis	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0003241	HP:0000054	Micropenis	3	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0003241	HP:0000054	Micropenis	3	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	4
HP:0003241	HP:0000054	Micropenis	3	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0003241	HP:0000054	Micropenis	3	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0003241	HP:0000059	Hypoplastic labia majora	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0003241	HP:0000064	Hypoplastic labia minora	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0003241	HP:0000054	Micropenis	3	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0003241	HP:0000059	Hypoplastic labia majora	3	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0003241	HP:0000054	Micropenis	3	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	.	14
HP:0003241	HP:0000059	Hypoplastic labia majora	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0003241	HP:0000064	Hypoplastic labia minora	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0003241	HP:0000054	Micropenis	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0003241	HP:0000054	Micropenis	3	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0003241	HP:0000054	Micropenis	3	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0003241	HP:0000054	Micropenis	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0003241	HP:0000054	Micropenis	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0003241	HP:0000054	Micropenis	3	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0003241	HP:0000059	Hypoplastic labia majora	3	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	HP:0040283 - Occasional	37
HP:0003241	HP:0000054	Micropenis	3	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0003241	HP:0000054	Micropenis	3	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0003241	HP:0000054	Micropenis	3	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent	8
HP:0003241	HP:0000054	Micropenis	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0003241	HP:0000054	Micropenis	3	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0003241	HP:0000054	Micropenis	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0003241	HP:0000054	Micropenis	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0003241	HP:0000059	Hypoplastic labia majora	3	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0003241	HP:0000054	Micropenis	3	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	102
HP:0003241	HP:0000054	Micropenis	3	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0003241	HP:0000054	Micropenis	3	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0003241	HP:0000054	Micropenis	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0003241	HP:0030260	Microphallus	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0003241	HP:0000054	Micropenis	3	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0003241	HP:0000054	Micropenis	3	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0003241	HP:0000054	Micropenis	3	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia	.	2
HP:0003241	HP:0000054	Micropenis	3	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	2
HP:0003241	HP:0000054	Micropenis	3	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	2
HP:0003241	HP:0000054	Micropenis	3	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	3
HP:0003241	HP:0000054	Micropenis	3	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	3
HP:0003241	HP:0000054	Micropenis	3	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0003241	HP:0000054	Micropenis	3	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia	.	17
HP:0003241	HP:0000054	Micropenis	3	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	17
HP:0003241	HP:0000054	Micropenis	3	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0003241	HP:0000054	Micropenis	3	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0003241	HP:0000054	Micropenis	3	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.	172
HP:0003241	HP:0000054	Micropenis	3	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	172
HP:0003241	HP:0000054	Micropenis	3	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0003241	HP:0000059	Hypoplastic labia majora	3	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0003241	HP:0000059	Hypoplastic labia majora	3	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0003241	HP:0000054	Micropenis	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0003241	HP:0000054	Micropenis	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0003241	HP:0000059	Hypoplastic labia majora	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0003241	HP:0000054	Micropenis	3	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0003241	HP:0000054	Micropenis	3	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0003241	HP:0000054	Micropenis	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0003241	HP:0000064	Hypoplastic labia minora	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0003241	HP:0000059	Hypoplastic labia majora	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0003241	HP:0000054	Micropenis	3	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0003241	HP:0000064	Hypoplastic labia minora	3	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0003241	HP:0000059	Hypoplastic labia majora	3	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0003241	HP:0000054	Micropenis	3	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0003241	HP:0030260	Microphallus	3	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	.	87
HP:0003241	HP:0000054	Micropenis	3	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	.	87
HP:0003241	HP:0000054	Micropenis	3	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	.	173
HP:0003241	HP:0000054	Micropenis	3	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.	173
HP:0003241	HP:0000054	Micropenis	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0003241	HP:0000054	Micropenis	3	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.	270
HP:0003241	HP:0000054	Micropenis	3	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0003241	HP:0000064	Hypoplastic labia minora	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0003241	HP:0000059	Hypoplastic labia majora	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0003241	HP:0000059	Hypoplastic labia majora	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0003241	HP:0000054	Micropenis	3	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0003241	HP:0000054	Micropenis	3	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0003241	HP:0000054	Micropenis	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003241	HP:0000054	Micropenis	3	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0003241	HP:0000054	Micropenis	3	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	15
HP:0003241	HP:0000054	Micropenis	3	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0003241	HP:0000054	Micropenis	3	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	92
HP:0003241	HP:0000054	Micropenis	3	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0003241	HP:0000054	Micropenis	3	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0003241	HP:0000054	Micropenis	3	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0003241	HP:0000054	Micropenis	3	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0003241	HP:0000054	Micropenis	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003241	HP:0000054	Micropenis	3	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0003241	HP:0000059	Hypoplastic labia majora	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0003241	HP:0000054	Micropenis	3	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0003241	HP:0000054	Micropenis	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0003241	HP:0000064	Hypoplastic labia minora	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0003241	HP:0000054	Micropenis	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0003241	HP:0000054	Micropenis	3	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	21
HP:0003241	HP:0000054	Micropenis	3	HID1 CL E G H	283987	15736	OMIM:619983
HP:0003241	HP:0030260	Microphallus	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0003241	HP:0000054	Micropenis	3	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0003241	HP:0000054	Micropenis	3	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0003241	HP:0000054	Micropenis	3	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia	.	8
HP:0003241	HP:0000054	Micropenis	3	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	8
HP:0003241	HP:0000054	Micropenis	3	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0003241	HP:0000054	Micropenis	3	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	.	34
HP:0003241	HP:0000054	Micropenis	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0003241	HP:0000054	Micropenis	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0003241	HP:0000054	Micropenis	3	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0003241	HP:0030260	Microphallus	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0003241	HP:0000054	Micropenis	3	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0003241	HP:0000054	Micropenis	3	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.	111
HP:0003241	HP:0000054	Micropenis	3	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040281 - Very frequent	111
HP:0003241	HP:0000054	Micropenis	3	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0003241	HP:0000054	Micropenis	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003241	HP:0000054	Micropenis	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000064	Hypoplastic labia minora	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000059	Hypoplastic labia majora	3	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99
HP:0003241	HP:0000059	Hypoplastic labia majora	3	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0003241	HP:0000054	Micropenis	3	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0003241	HP:0000054	Micropenis	3	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0003241	HP:0000054	Micropenis	3	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0003241	HP:0000054	Micropenis	3	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0003241	HP:0000054	Micropenis	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0003241	HP:0000054	Micropenis	3	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0003241	HP:0000054	Micropenis	3	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0003241	HP:0000054	Micropenis	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0003241	HP:0000054	Micropenis	3	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0003241	HP:0000054	Micropenis	3	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0003241	HP:0000054	Micropenis	3	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0003241	HP:0000054	Micropenis	3	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0003241	HP:0000054	Micropenis	3	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0003241	HP:0000054	Micropenis	3	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0003241	HP:0000054	Micropenis	3	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0003241	HP:0000054	Micropenis	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0003241	HP:0000054	Micropenis	3	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0003241	HP:0000054	Micropenis	3	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0003241	HP:0000054	Micropenis	3	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0003241	HP:0000054	Micropenis	3	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0003241	HP:0000054	Micropenis	3	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.	88
HP:0003241	HP:0000054	Micropenis	3	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0003241	HP:0000054	Micropenis	3	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0003241	HP:0000054	Micropenis	3	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0003241	HP:0000054	Micropenis	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0003241	HP:0000054	Micropenis	3	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0003241	HP:0000054	Micropenis	3	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0003241	HP:0000054	Micropenis	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0003241	HP:0000054	Micropenis	3	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0003241	HP:0000064	Hypoplastic labia minora	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0003241	HP:0000054	Micropenis	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0003241	HP:0000064	Hypoplastic labia minora	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0003241	HP:0000054	Micropenis	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0003241	HP:0000064	Hypoplastic labia minora	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0003241	HP:0000064	Hypoplastic labia minora	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0003241	HP:0000064	Hypoplastic labia minora	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0003241	HP:0000054	Micropenis	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0003241	HP:0000054	Micropenis	3	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	5
HP:0003241	HP:0000054	Micropenis	3	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	5
HP:0003241	HP:0000054	Micropenis	3	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0003241	HP:0000054	Micropenis	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0003241	HP:0000054	Micropenis	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0003241	HP:0000054	Micropenis	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0003241	HP:0000054	Micropenis	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0003241	HP:0000054	Micropenis	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0003241	HP:0030260	Microphallus	3	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0003241	HP:0000054	Micropenis	3	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0003241	HP:0000054	Micropenis	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0003241	HP:0000064	Hypoplastic labia minora	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0003241	HP:0000054	Micropenis	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000064	Hypoplastic labia minora	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000054	Micropenis	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0003241	HP:0000054	Micropenis	3	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	185
HP:0003241	HP:0000054	Micropenis	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0003241	HP:0000064	Hypoplastic labia minora	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0003241	HP:0000064	Hypoplastic labia minora	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0003241	HP:0000064	Hypoplastic labia minora	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0003241	HP:0000054	Micropenis	3	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0003241	HP:0000054	Micropenis	3	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0003241	HP:0000054	Micropenis	3	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0003241	HP:0000054	Micropenis	3	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0003241	HP:0000054	Micropenis	3	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0003241	HP:0000054	Micropenis	3	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0003241	HP:0000059	Hypoplastic labia majora	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0003241	HP:0000059	Hypoplastic labia majora	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0003241	HP:0000054	Micropenis	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0003241	HP:0000064	Hypoplastic labia minora	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0003241	HP:0000054	Micropenis	3	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0003241	HP:0000054	Micropenis	3	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4	.	38
HP:0003241	HP:0000054	Micropenis	3	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0003241	HP:0000054	Micropenis	3	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia	.	6
HP:0003241	HP:0000054	Micropenis	3	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0003241	HP:0000064	Hypoplastic labia minora	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0003241	HP:0000064	Hypoplastic labia minora	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0003241	HP:0000064	Hypoplastic labia minora	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0003241	HP:0000054	Micropenis	3	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0003241	HP:0030260	Microphallus	3	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0003241	HP:0000054	Micropenis	3	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0003241	HP:0000064	Hypoplastic labia minora	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0003241	HP:0000059	Hypoplastic labia majora	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0003241	HP:0000064	Hypoplastic labia minora	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0003241	HP:0000054	Micropenis	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0003241	HP:0000059	Hypoplastic labia majora	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0003241	HP:0000064	Hypoplastic labia minora	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0003241	HP:0000059	Hypoplastic labia majora	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0003241	HP:0000059	Hypoplastic labia majora	3	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0003241	HP:0000059	Hypoplastic labia majora	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0003241	HP:0000064	Hypoplastic labia minora	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0003241	HP:0000054	Micropenis	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0003241	HP:0000064	Hypoplastic labia minora	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0003241	HP:0000054	Micropenis	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003241	HP:0000054	Micropenis	3	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	HP:0040283 - Occasional	41
HP:0003241	HP:0000054	Micropenis	3	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.	3
HP:0003241	HP:0000054	Micropenis	3	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	2
HP:0003241	HP:0000054	Micropenis	3	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0003241	HP:0000054	Micropenis	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0003241	HP:0000054	Micropenis	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0003241	HP:0000054	Micropenis	3	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0003241	HP:0000054	Micropenis	3	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0003241	HP:0030260	Microphallus	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0003241	HP:0000054	Micropenis	3	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0003241	HP:0000054	Micropenis	3	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.	103
HP:0003241	HP:0000054	Micropenis	3	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	HP:0040284 - Very rare	1129
HP:0003241	HP:0000054	Micropenis	3	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0003241	HP:0000054	Micropenis	3	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0003241	HP:0000054	Micropenis	3	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0003241	HP:0000054	Micropenis	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0003241	HP:0000059	Hypoplastic labia majora	3	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0003241	HP:0000054	Micropenis	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0003241	HP:0000054	Micropenis	3	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0003241	HP:0000059	Hypoplastic labia majora	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0003241	HP:0000054	Micropenis	3	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0003241	HP:0000054	Micropenis	3	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0003241	HP:0000054	Micropenis	3	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	.	9
HP:0003241	HP:0000054	Micropenis	3	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0003241	HP:0000054	Micropenis	3	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0003241	HP:0000054	Micropenis	3	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.	34
HP:0003241	HP:0000054	Micropenis	3	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0003241	HP:0000054	Micropenis	3	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0003241	HP:0000054	Micropenis	3	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0003241	HP:0000054	Micropenis	3	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0003241	HP:0000054	Micropenis	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0003241	HP:0000054	Micropenis	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000064	Hypoplastic labia minora	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000064	Hypoplastic labia minora	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000054	Micropenis	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000064	Hypoplastic labia minora	3	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0003241	HP:0000064	Hypoplastic labia minora	3	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0003241	HP:0000054	Micropenis	3	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0003241	HP:0000064	Hypoplastic labia minora	3	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0003241	HP:0000054	Micropenis	3	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0003241	HP:0000064	Hypoplastic labia minora	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0003241	HP:0000059	Hypoplastic labia majora	3	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0003241	HP:0000054	Micropenis	3	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0003241	HP:0000059	Hypoplastic labia majora	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0003241	HP:0000059	Hypoplastic labia majora	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0003241	HP:0000054	Micropenis	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0003241	HP:0000054	Micropenis	3	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0003241	HP:0000054	Micropenis	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0003241	HP:0000054	Micropenis	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0003241	HP:0000054	Micropenis	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0003241	HP:0000054	Micropenis	3	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0003241	HP:0000054	Micropenis	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0003241	HP:0000054	Micropenis	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0003241	HP:0000054	Micropenis	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003241	HP:0000054	Micropenis	3	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0003241	HP:0000059	Hypoplastic labia majora	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0003241	HP:0000054	Micropenis	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0003241	HP:0000054	Micropenis	3	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0003241	HP:0030260	Microphallus	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0003241	HP:0000054	Micropenis	3	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0003241	HP:0030260	Microphallus	3	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0003241	HP:0000054	Micropenis	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0003241	HP:0000054	Micropenis	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0003241	HP:0000054	Micropenis	3	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0003241	HP:0000054	Micropenis	3	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0003241	HP:0000054	Micropenis	3	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	.	14
HP:0003241	HP:0000054	Micropenis	3	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	14
HP:0003241	HP:0000054	Micropenis	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	16
HP:0003241	HP:0000054	Micropenis	3	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	16
HP:0003241	HP:0000064	Hypoplastic labia minora	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0003241	HP:0000059	Hypoplastic labia majora	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0003241	HP:0000054	Micropenis	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0003241	HP:0000054	Micropenis	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0003241	HP:0000054	Micropenis	3	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0003241	HP:0000054	Micropenis	3	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0003241	HP:0000054	Micropenis	3	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0003241	HP:0000064	Hypoplastic labia minora	3	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0003241	HP:0030260	Microphallus	3	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0003241	HP:0030260	Microphallus	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0003241	HP:0000054	Micropenis	3	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0003241	HP:0000054	Micropenis	3	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0003241	HP:0000054	Micropenis	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0003241	HP:0000059	Hypoplastic labia majora	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0003241	HP:0000054	Micropenis	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0003241	HP:0000054	Micropenis	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0003241	HP:0000059	Hypoplastic labia majora	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0003241	HP:0000059	Hypoplastic labia majora	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0003241	HP:0000054	Micropenis	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0003241	HP:0000059	Hypoplastic labia majora	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional	174
HP:0003241	HP:0000054	Micropenis	3	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0003241	HP:0000054	Micropenis	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000064	Hypoplastic labia minora	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000054	Micropenis	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000064	Hypoplastic labia minora	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003241	HP:0000064	Hypoplastic labia minora	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0003241	HP:0000064	Hypoplastic labia minora	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0003241	HP:0000064	Hypoplastic labia minora	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0003241	HP:0000054	Micropenis	3	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	61
HP:0003241	HP:0000054	Micropenis	3	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0003241	HP:0000054	Micropenis	3	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0003241	HP:0000054	Micropenis	3	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	5
HP:0003241	HP:0000054	Micropenis	3	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	5
HP:0003241	HP:0000054	Micropenis	3	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0003241	HP:0000054	Micropenis	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003241	HP:0000054	Micropenis	3	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0003241	HP:0000054	Micropenis	3	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias	.	86
HP:0003241	HP:0000054	Micropenis	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0003241	HP:0000054	Micropenis	3	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0003241	HP:0000054	Micropenis	3	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG	HP:0040282 - Frequent	21
HP:0003241	HP:0000054	Micropenis	3	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.	18
HP:0003241	HP:0000054	Micropenis	3	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040282 - Frequent	18
HP:0003241	HP:0000054	Micropenis	3	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0003241	HP:0000054	Micropenis	3	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0003241	HP:0030260	Microphallus	3	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia	.	34
HP:0003241	HP:0000054	Micropenis	3	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia	.	34
HP:0003241	HP:0000054	Micropenis	3	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0003241	HP:0000054	Micropenis	3	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0003241	HP:0000054	Micropenis	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0003241	HP:0000064	Hypoplastic labia minora	3	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0003241	HP:0000054	Micropenis	3	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0003241	HP:0000054	Micropenis	3	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0003241	HP:0000054	Micropenis	3	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0003241	HP:0000054	Micropenis	3	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0003241	HP:0000054	Micropenis	3	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0003241	HP:0000054	Micropenis	3	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional	241
HP:0003241	HP:0000054	Micropenis	3	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0003241	HP:0030260	Microphallus	3	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0003241	HP:0000054	Micropenis	3	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0003241	HP:0000054	Micropenis	3	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0003241	HP:0030260	Microphallus	3	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0003241	HP:0000054	Micropenis	3	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0003241	HP:0000054	Micropenis	3	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0003241	HP:0000054	Micropenis	3	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0003241	HP:0000054	Micropenis	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0003241	HP:0000054	Micropenis	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0003241	HP:0000059	Hypoplastic labia majora	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0003241	HP:0000054	Micropenis	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0003241	HP:0000054	Micropenis	3	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0003241	HP:0030260	Microphallus	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0003241	HP:0000054	Micropenis	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0003241	HP:0000059	Hypoplastic labia majora	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0003241	HP:0000064	Hypoplastic labia minora	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0003241	HP:0000059	Hypoplastic labia majora	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0003241	HP:0000054	Micropenis	3	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0003241	HP:0000054	Micropenis	3	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0003241	HP:0000054	Micropenis	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0003241	HP:0000059	Hypoplastic labia majora	3	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0003241	HP:0000054	Micropenis	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0003241	HP:0000054	Micropenis	3	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0003241	HP:0000054	Micropenis	3	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0003241	HP:0000054	Micropenis	3	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome	.	2
HP:0003241	HP:0000054	Micropenis	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0003241	HP:0000059	Hypoplastic labia majora	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0003241	HP:0000054	Micropenis	3	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0003241	HP:0000054	Micropenis	3	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	10
HP:0003241	HP:0000054	Micropenis	3	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	10
HP:0003241	HP:0000054	Micropenis	3	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0003241	HP:0000059	Hypoplastic labia majora	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0003241	HP:0000064	Hypoplastic labia minora	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0003241	HP:0000059	Hypoplastic labia majora	3	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0003241	HP:0000054	Micropenis	3	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0003241	HP:0000054	Micropenis	3	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0003241	HP:0000054	Micropenis	3	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0003241	HP:0000054	Micropenis	3	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0003241	HP:0000054	Micropenis	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0003241	HP:0000054	Micropenis	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0003241	HP:0000054	Micropenis	3	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0003241	HP:0000054	Micropenis	3	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF

Genes (586) :ABCA4 ACTA1 ACTB ADAR ADAT3 AGBL5 AHI1 AHR ALG12 ALKBH8 ALMS1 ALOX12B ALOXE3 ALX4 ANK1 ANOS1 AR ARCN1 ARHGEF18 ARID1B ARL2BP ARL3 ARL6 ARNT2 ARX ATAD3A ATP6V1A ATRX AXL B3GALNT2 B3GLCT B4GAT1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BEST1 BLTP1 BMP4 BRCC3 BRD4 BUB1B BUD23 C14ORF39 C2CD3 CA4 CAMK2A CASK CASZ1 CCDC141 CCDC22 CCDC28B CCDC34 CCNQ CDC42BPB CDC45 CDC6 CDH11 CDH2 CDHR1 CDKL5 CDKN1C CDON CDT1 CENPT CEP19 CEP290 CEP41 CERKL CFAP418 CFTR CHD4 CHD7 CHRM3 CHRNG CILK1 CLIP2 CLRN1 CNGA1 CNGB1 COG5 COL4A1 COLEC10 COX7B CPE CRB1 CRPPA CRX CTCF CTDP1 CTU2 CUL4B CUL7 CYB5A CYP11A1 CYP11B1 CYP17A1 DACT1 DAG1 DAZ1 DAZ2 DAZ3 DAZ4 DCAF17 DCC DCX DDB2 DDX3Y DDX6 DHCR7 DHDDS DHODH DHX37 DHX38 DIS3L2 DISP1 DKC1 DLK1 DLL1 DMRT3 DMXL2 DNAJC19 DNAJC30 DPM1 DPM2 DPYSL5 DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBF3 ECE1 ECEL1 EED EHMT1 EIF2S3 EIF4H ELN ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESR2 EXT2 EYS EZH2 FAM111A FAM161A FANCB FANCD2 FANCF FANCL FANCM FARSB FAT4 FBN1 FEZF1 FGF17 FGF8 FGFR1 FGFR2 FIG4 FKBP6 FKRP FKTN FLRT3 FMR1 FOXA2 FOXH1 FRAS1 FREM2 FSCN2 FSHB FXR1 FZD2 GABRD GAD1 GAS1 GATA4 GBA2 GHR GLI2 GLI3 GLYCTK GMNN GMPPB GNAO1 GNB2 GNRH1 GNRHR GPC3 GPC4 GPR161 GRIA3 GRIN1 GRIP1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H4C9 HCCS HDAC8 HERC1 HERC2 HESX1 HGSNAT HID1 HMGA2 HNRNPR HOXA13 HOXD13 HS6ST1 HSD3B2 HSPG2 HUWE1 IDH3A IDH3B IER3IP1 IFIH1 IFT140 IFT172 IFT27 IFT74 IFT80 IFT88 IGF2 IL17RD IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INTU IPW IRF6 ISL1 KAT6B KATNIP KCNA1 KCNAB2 KCNJ6 KDM5C KDM6A KIAA0586 KIAA0753 KIAA1549 KIF7 KISS1 KISS1R KIZ KLF1 KLHL10 KLHL15 KLHL40 KLHL41 KLHL7 KMT2D LAMA5 LARGE1 LEP LEPR LHB LHCGR LHX4 LIG4 LIMK1 LMNA LMNB2 LMOD3 LMX1B LRAT LSM11 LSS LUZP1 LZTFL1 MADD MAGEL2 MAK MAMLD1 MAP3K1 MAP3K7 MAPRE2 MBD5 MBTPS2 MCM8 MCTP2 MED12 MEG3 MEGF8 MEIOB MERTK METTL27 MID1 MINPP1 MKKS MKRN3 MKRN3-AS1 MKS1 MLXIPL MMP23B MNX1 MOGS MTM1 MYH3 MYRF NAA10 NANOS1 NCF1 NDN NDNF NDUFB11 NEB NECTIN1 NEK1 NEK2 NEUROD2 NIPBL NODAL NPAP1 NPHP1 NR0B1 NR2E3 NR5A1 NRL NSD1 NSMF NXN OCA2 OFD1 OGT OPHN1 ORC1 ORC4 ORC6 OTUD5 OTX2 PAFAH1B1 PBX1 PCARE PDE6A PDE6B PDE6G PDPN PEX1 PEX6 PHF21A PHF6 PHF8 PHGDH PIEZO2 PIGA PIGP PIGQ PLAG1 PMM2 PNKP PNLDC1 PNPLA6 POC1A POLA1 POLE POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 PPP1R12A PPP2R3C PQBP1 PRCD PRDM13 PRDM16 PRKCZ PRKDC PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRRX1 PSMC1 PSMD12 PTCH1 PTDSS1 PTPN11 PWAR1 PWRN1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAD51C RBMY1A1 RBP3 RDH12 REEP6 RERE RFC2 RGR RHO RIPK4 RLBP1 RLIM RNASEH2A RNASEH2B RNASEH2C RNF113A RNU4ATAC RNU7-1 ROBO1 ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL10 RPL10L RSPO1 RSPO2 RTL1 RTTN RXYLT1 RYR1 SAG SALL1 SAMD9 SAMHD1 SATB2 SC5D SCAPER SCN1B SCN2A SDCCAG8 SEMA3A SEMA3E SEMA4A SETBP1 SGPL1 SHH SIK1 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SLC25A22 SLC25A24 SLC29A3 SLC39A4 SLC7A14 SMAD4 SMARCA2 SMC1A SMC3 SMCHD1 SMO SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOHLH1 SOX10 SOX2 SOX3 SOX9 SPATA7 SPEN SPRY4 SPTBN1 SRA1 SRD5A2 SRY STAG1 STT3A STT3B STX1A STXBP1 SUFU SUZ12 SYCE1 SYCP3 TAC3 TACR3 TAF4B TAPT1 TBC1D20 TBCE TBL1XR1 TBL2 TBX3 TCF12 TCF4 TCOF1 TCTN3 TDGF1 TDRD9 TEX11 TEX14 TEX15 TGIF1 THOC2 THOC6 TMEM216 TMEM270 TOE1 TOGARAM1 TOPORS TP63 TREX1 TRIM32 TRIM8 TRRAP TSPY1 TSPYL1 TTC8 TUB TUBB TULP1 TWIST2 TYMS UBA1 UBE2A UBE3B UBE4B UBR1 UBR7 USH2A USP7 USP9Y VAC14 VAMP7 VPS37D WASHC5 WDPCP WDR11 WDR35 WNT5A WNT7A WT1 WWOX XPA XPC XRCC2 XRCC4 YWHAE ZEB2 ZFPM2 ZIC2 ZMPSTE24 ZMYND15 ZNF408 ZNF513 ZPR1

Diseases (420) :ORPHA:791 ORPHA:171430 OMIM:243310 ORPHA:64755 ORPHA:51 ORPHA:363528 ORPHA:79324 OMIM:607143 OMIM:618504 ORPHA:64 OMIM:242100 ORPHA:228390 ORPHA:52022 ORPHA:251066 OMIM:308700 ORPHA:478 OMIM:300068 ORPHA:95706 ORPHA:90797 OMIM:312300 OMIM:617164 ORPHA:251056 ORPHA:110 OMIM:209900 OMIM:600151 ORPHA:3157 OMIM:308350 ORPHA:1934 OMIM:300215 ORPHA:452 OMIM:618810 OMIM:617403 ORPHA:847 OMIM:301040 OMIM:309580 OMIM:146110 ORPHA:899 ORPHA:709 OMIM:261540 OMIM:615287 OMIM:614175 ORPHA:904 OMIM:615981 OMIM:615982 OMIM:615983 OMIM:617822 OMIM:607932 ORPHA:280679 ORPHA:199 OMIM:257300 ORPHA:399805 OMIM:615948 OMIM:617798 ORPHA:1606 ORPHA:7 ORPHA:140952 OMIM:300707 OMIM:619841 ORPHA:2554 OMIM:617063 OMIM:613805 ORPHA:1299 OMIM:618929 ORPHA:436144 OMIM:614732 ORPHA:397590 ORPHA:280200 ORPHA:95496 OMIM:618702 OMIM:614464 OMIM:617159 ORPHA:138 OMIM:214800 ORPHA:432 ORPHA:2970 ORPHA:2990 OMIM:612651 ORPHA:263487 OMIM:248340 OMIM:309801 OMIM:619326 ORPHA:363611 OMIM:604168 OMIM:618142 OMIM:300354 ORPHA:85293 OMIM:273750 ORPHA:90796 OMIM:250790 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:90793 ORPHA:857 ORPHA:1646 OMIM:241080 ORPHA:3464 OMIM:300067 ORPHA:910 OMIM:618653 ORPHA:818 OMIM:270400 OMIM:613861 OMIM:263750 ORPHA:251510 ORPHA:983 ORPHA:2849 OMIM:305000 ORPHA:96334 ORPHA:453533 OMIM:610198 ORPHA:66634 ORPHA:79322 ORPHA:329178 OMIM:619435 OMIM:619847 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:613091 ORPHA:93271 ORPHA:268261 ORPHA:464311 OMIM:617330 OMIM:613870 OMIM:615065 ORPHA:3447 OMIM:610253 ORPHA:96147 ORPHA:85282 OMIM:300148 OMIM:194050 OMIM:610756 OMIM:133540 OMIM:216400 OMIM:618187 ORPHA:93325 OMIM:602361 OMIM:300514 OMIM:227646 OMIM:603467 OMIM:614083 OMIM:618086 OMIM:613658 OMIM:615546 ORPHA:284979 OMIM:616030 OMIM:612702 OMIM:615465 OMIM:147950 OMIM:207410 OMIM:123790 OMIM:216340 ORPHA:3472 ORPHA:370968 OMIM:236670 ORPHA:261483 ORPHA:95494 ORPHA:2052 OMIM:219000 OMIM:229070 ORPHA:52901 OMIM:618823 ORPHA:93328 OMIM:164745 OMIM:619124 OMIM:615542 ORPHA:320391 ORPHA:633 OMIM:615849 OMIM:610829 ORPHA:672 OMIM:146510 OMIM:220120 OMIM:616835 OMIM:619503 OMIM:614841 ORPHA:373 ORPHA:364028 OMIM:617667 OMIM:619951 OMIM:300882 ORPHA:457359 OMIM:176270 OMIM:619983 OMIM:620073 OMIM:140000 ORPHA:887 OMIM:614880 OMIM:201810 ORPHA:90791 ORPHA:800 OMIM:255800 OMIM:309590 OMIM:614231 OMIM:619471 OMIM:615996 OMIM:610156 ORPHA:75858 ORPHA:559 OMIM:617926 OMIM:617925 ORPHA:1300 OMIM:119500 ORPHA:93930 ORPHA:85201 OMIM:606170 OMIM:616784 ORPHA:435628 OMIM:300534 ORPHA:85279 ORPHA:2322 OMIM:147920 OMIM:616546 OMIM:619479 OMIM:200990 OMIM:614837 OMIM:613673 OMIM:300982 OMIM:620076 OMIM:614962 ORPHA:66628 ORPHA:179494 OMIM:228300 OMIM:176410 OMIM:606593 ORPHA:99812 ORPHA:740 OMIM:619180 ORPHA:495818 OMIM:619486 OMIM:618840 OMIM:615994 OMIM:619004 OMIM:619005 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 ORPHA:456328 OMIM:157800 ORPHA:2505 OMIM:616734 ORPHA:228402 OMIM:156200 ORPHA:85284 OMIM:612885 ORPHA:1596 OMIM:300895 ORPHA:65759 OMIM:614976 OMIM:300000 ORPHA:284339 OMIM:605231 OMIM:249000 ORPHA:1552 OMIM:606056 ORPHA:79330 OMIM:618280 OMIM:300855 ORPHA:399808 OMIM:618841 ORPHA:3253 ORPHA:2751 OMIM:263520 OMIM:122470 ORPHA:393 ORPHA:2138 OMIM:617480 OMIM:614838 ORPHA:1507 OMIM:300209 OMIM:300997 OMIM:300486 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:301056 ORPHA:990 OMIM:610125 ORPHA:217385 OMIM:617641 ORPHA:3220 OMIM:301900 ORPHA:127 ORPHA:85287 OMIM:601815 OMIM:248700 OMIM:300868 ORPHA:79318 OMIM:619528 ORPHA:2377 OMIM:245800 OMIM:275400 OMIM:614813 ORPHA:163976 OMIM:618336 ORPHA:861 OMIM:613156 OMIM:201750 ORPHA:95699 OMIM:305600 OMIM:618820 OMIM:618419 OMIM:309500 ORPHA:93950 OMIM:619761 OMIM:615966 OMIM:610628 OMIM:244200 ORPHA:90695 OMIM:620071 OMIM:617516 ORPHA:2658 OMIM:151100 ORPHA:2510 OMIM:614222 OMIM:201000 OMIM:600118 OMIM:212720 OMIM:614225 OMIM:618577 OMIM:613390 ORPHA:1234 OMIM:263650 OMIM:300978 OMIM:300953 OMIM:210710 OMIM:619487 OMIM:113000 OMIM:268310 OMIM:300998 ORPHA:459070 OMIM:619689 OMIM:610644 OMIM:618021 ORPHA:468631 ORPHA:98905 OMIM:617053 ORPHA:251019 ORPHA:251028 ORPHA:46059 OMIM:615993 OMIM:614897 OMIM:269150 ORPHA:798 OMIM:617575 ORPHA:398079 ORPHA:94065 OMIM:613406 OMIM:206900 OMIM:612289 ORPHA:168569 OMIM:602782 OMIM:201100 ORPHA:2588 OMIM:619293 ORPHA:2728 OMIM:603457 ORPHA:2250 OMIM:241800 ORPHA:177907 ORPHA:77298 OMIM:619475 ORPHA:753 OMIM:264600 ORPHA:1772 ORPHA:502434 ORPHA:370921 OMIM:615597 ORPHA:370924 OMIM:614840 OMIM:616897 OMIM:615663 OMIM:241410 ORPHA:2323 OMIM:602342 OMIM:181450 ORPHA:3138 OMIM:619718 OMIM:610954 ORPHA:2896 ORPHA:2753 OMIM:617960 OMIM:300957 ORPHA:457240 ORPHA:363444 OMIM:608091 OMIM:614969 OMIM:619185 OMIM:106260 OMIM:604292 OMIM:129400 OMIM:618454 ORPHA:168593 ORPHA:920 OMIM:200110 OMIM:209885 OMIM:620040 OMIM:301830 OMIM:300860 ORPHA:163956 OMIM:244450 ORPHA:2315 OMIM:243800 OMIM:619189 ORPHA:500055 OMIM:616863 OMIM:614858 ORPHA:2879 OMIM:276820 ORPHA:3097 OMIM:619145 OMIM:616541 ORPHA:261552 ORPHA:261537 OMIM:619321

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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