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:
External genital hypoplasia (HP:0003241)

Parent Node:
Abnormal penis morphology (HP:0000036)

Parent Node:
Hypoplastic male external genitalia (HP:0000050)

..Starting node
..Hypoplasia of penis (HP:0008736)

Term ID:

8736

Name:

Hypoplasia of penis

Synonym:

Underdeveloped penis

Definition:

Comments:

Reference:

HP:0008736

Genes and Diseases:

Child Nodes:

........

Micropenis (HP:0000054)

........

Microphallus (HP:0030260)

Sister Nodes:

Decreased testicular size (HP:0008734)

Small scrotum (HP:0000046)

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:0008736	HP:0008736	Hypoplasia of penis	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	826
HP:0008736	HP:0008736	Hypoplasia of penis	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0008736	HP:0008736	Hypoplasia of penis	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0008736	HP:0008736	Hypoplasia of penis	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0008736	HP:0008736	Hypoplasia of penis	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0008736	HP:0008736	Hypoplasia of penis	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	175
HP:0008736	HP:0008736	Hypoplasia of penis	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0008736	HP:0008736	Hypoplasia of penis	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0008736	HP:0008736	Hypoplasia of penis	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0008736	HP:0008736	Hypoplasia of penis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0008736	HP:0008736	Hypoplasia of penis	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome		132
HP:0008736	HP:0008736	Hypoplasia of penis	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040281 - Very frequent	150
HP:0008736	HP:0008736	Hypoplasia of penis	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0008736	HP:0008736	Hypoplasia of penis	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	65
HP:0008736	HP:0008736	Hypoplasia of penis	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0008736	HP:0008736	Hypoplasia of penis	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0008736	HP:0008736	Hypoplasia of penis	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	6
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	29
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	29
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0008736	HP:0008736	Hypoplasia of penis	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040281 - Very frequent	166
HP:0008736	HP:0008736	Hypoplasia of penis	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0008736	HP:0008736	Hypoplasia of penis	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0008736	HP:0008736	Hypoplasia of penis	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0008736	HP:0008736	Hypoplasia of penis	0	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0008736	HP:0008736	Hypoplasia of penis	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0008736	HP:0008736	Hypoplasia of penis	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0008736	HP:0008736	Hypoplasia of penis	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0008736	HP:0008736	Hypoplasia of penis	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0008736	HP:0008736	Hypoplasia of penis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	114
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	114
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	118
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	71
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	97
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	97
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	87
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	25
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5		25
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	66
HP:0008736	HP:0008736	Hypoplasia of penis	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	119
HP:0008736	HP:0008736	Hypoplasia of penis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	182
HP:0008736	HP:0008736	Hypoplasia of penis	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0008736	HP:0008736	Hypoplasia of penis	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0008736	HP:0008736	Hypoplasia of penis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0008736	HP:0008736	Hypoplasia of penis	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	23
HP:0008736	HP:0008736	Hypoplasia of penis	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0008736	HP:0008736	Hypoplasia of penis	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0008736	HP:0008736	Hypoplasia of penis	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0008736	HP:0008736	Hypoplasia of penis	0	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0008736	HP:0008736	Hypoplasia of penis	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0008736	HP:0008736	Hypoplasia of penis	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	147
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	200
HP:0008736	HP:0008736	Hypoplasia of penis	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0008736	HP:0008736	Hypoplasia of penis	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0008736	HP:0008736	Hypoplasia of penis	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	342
HP:0008736	HP:0008736	Hypoplasia of penis	0	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15		90
HP:0008736	HP:0008736	Hypoplasia of penis	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	71
HP:0008736	HP:0008736	Hypoplasia of penis	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0008736	HP:0008736	Hypoplasia of penis	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0008736	HP:0008736	Hypoplasia of penis	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0008736	HP:0008736	Hypoplasia of penis	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	515
HP:0008736	HP:0008736	Hypoplasia of penis	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0008736	HP:0008736	Hypoplasia of penis	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0008736	HP:0008736	Hypoplasia of penis	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0008736	HP:0008736	Hypoplasia of penis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	60
HP:0008736	HP:0008736	Hypoplasia of penis	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	44
HP:0008736	HP:0008736	Hypoplasia of penis	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	164
HP:0008736	HP:0008736	Hypoplasia of penis	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0008736	HP:0008736	Hypoplasia of penis	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0008736	HP:0008736	Hypoplasia of penis	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0008736	HP:0008736	Hypoplasia of penis	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0008736	HP:0008736	Hypoplasia of penis	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	156
HP:0008736	HP:0008736	Hypoplasia of penis	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	158
HP:0008736	HP:0008736	Hypoplasia of penis	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0008736	HP:0008736	Hypoplasia of penis	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0008736	HP:0008736	Hypoplasia of penis	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0008736	HP:0008736	Hypoplasia of penis	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:0008736	HP:0008736	Hypoplasia of penis	0	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0008736	HP:0008736	Hypoplasia of penis	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:0008736	HP:0008736	Hypoplasia of penis	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0008736	HP:0008736	Hypoplasia of penis	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0008736	HP:0008736	Hypoplasia of penis	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0008736	HP:0008736	Hypoplasia of penis	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0008736	HP:0008736	Hypoplasia of penis	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	36
HP:0008736	HP:0008736	Hypoplasia of penis	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1		145
HP:0008736	HP:0008736	Hypoplasia of penis	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0008736	HP:0008736	Hypoplasia of penis	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0008736	HP:0008736	Hypoplasia of penis	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0008736	HP:0008736	Hypoplasia of penis	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0008736	HP:0008736	Hypoplasia of penis	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0008736	HP:0008736	Hypoplasia of penis	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0008736	HP:0008736	Hypoplasia of penis	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome	HP:0040281 - Very frequent	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0008736	HP:0008736	Hypoplasia of penis	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0008736	HP:0008736	Hypoplasia of penis	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0008736	HP:0008736	Hypoplasia of penis	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional	25
HP:0008736	HP:0008736	Hypoplasia of penis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0008736	HP:0008736	Hypoplasia of penis	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0008736	HP:0008736	Hypoplasia of penis	0	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		4
HP:0008736	HP:0008736	Hypoplasia of penis	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0008736	HP:0008736	Hypoplasia of penis	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0008736	HP:0008736	Hypoplasia of penis	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	14
HP:0008736	HP:0008736	Hypoplasia of penis	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0008736	HP:0008736	Hypoplasia of penis	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0008736	HP:0008736	Hypoplasia of penis	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	5
HP:0008736	HP:0008736	Hypoplasia of penis	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0008736	HP:0008736	Hypoplasia of penis	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0008736	HP:0008736	Hypoplasia of penis	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0008736	HP:0008736	Hypoplasia of penis	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0008736	HP:0008736	Hypoplasia of penis	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0008736	HP:0008736	Hypoplasia of penis	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0008736	HP:0008736	Hypoplasia of penis	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	4
HP:0008736	HP:0008736	Hypoplasia of penis	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0008736	HP:0008736	Hypoplasia of penis	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0008736	HP:0008736	Hypoplasia of penis	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0008736	HP:0008736	Hypoplasia of penis	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent	8
HP:0008736	HP:0008736	Hypoplasia of penis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0008736	HP:0008736	Hypoplasia of penis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0008736	HP:0008736	Hypoplasia of penis	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0008736	HP:0008736	Hypoplasia of penis	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0008736	HP:0008736	Hypoplasia of penis	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0008736	HP:0008736	Hypoplasia of penis	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome		102
HP:0008736	HP:0008736	Hypoplasia of penis	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	209
HP:0008736	HP:0008736	Hypoplasia of penis	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	81
HP:0008736	HP:0008736	Hypoplasia of penis	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0008736	HP:0008736	Hypoplasia of penis	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	56
HP:0008736	HP:0008736	Hypoplasia of penis	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0008736	HP:0008736	Hypoplasia of penis	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0008736	HP:0008736	Hypoplasia of penis	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0008736	HP:0008736	Hypoplasia of penis	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0008736	HP:0008736	Hypoplasia of penis	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0008736	HP:0008736	Hypoplasia of penis	0	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	3
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia		17
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	17
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	172
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0008736	HP:0008736	Hypoplasia of penis	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	172
HP:0008736	HP:0008736	Hypoplasia of penis	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0008736	HP:0008736	Hypoplasia of penis	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0008736	HP:0008736	Hypoplasia of penis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0008736	HP:0008736	Hypoplasia of penis	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0008736	HP:0008736	Hypoplasia of penis	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0008736	HP:0008736	Hypoplasia of penis	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0008736	HP:0008736	Hypoplasia of penis	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0008736	HP:0008736	Hypoplasia of penis	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0008736	HP:0008736	Hypoplasia of penis	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0008736	HP:0008736	Hypoplasia of penis	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0008736	HP:0008736	Hypoplasia of penis	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	26
HP:0008736	HP:0008736	Hypoplasia of penis	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040282 - Frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0008736	HP:0008736	Hypoplasia of penis	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0008736	HP:0008736	Hypoplasia of penis	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0008736	HP:0008736	Hypoplasia of penis	0	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0008736	HP:0008736	Hypoplasia of penis	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040282 - Frequent	98
HP:0008736	HP:0008736	Hypoplasia of penis	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome		173
HP:0008736	HP:0008736	Hypoplasia of penis	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0008736	HP:0008736	Hypoplasia of penis	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0008736	HP:0008736	Hypoplasia of penis	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0008736	HP:0008736	Hypoplasia of penis	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0008736	HP:0008736	Hypoplasia of penis	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0008736	HP:0008736	Hypoplasia of penis	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0008736	HP:0008736	Hypoplasia of penis	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0008736	HP:0008736	Hypoplasia of penis	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0008736	HP:0008736	Hypoplasia of penis	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008736	HP:0008736	Hypoplasia of penis	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0008736	HP:0008736	Hypoplasia of penis	0	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		15
HP:0008736	HP:0008736	Hypoplasia of penis	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0008736	HP:0008736	Hypoplasia of penis	0	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		92
HP:0008736	HP:0008736	Hypoplasia of penis	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0008736	HP:0008736	Hypoplasia of penis	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0008736	HP:0008736	Hypoplasia of penis	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0008736	HP:0008736	Hypoplasia of penis	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0008736	HP:0008736	Hypoplasia of penis	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0008736	HP:0008736	Hypoplasia of penis	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	36
HP:0008736	HP:0008736	Hypoplasia of penis	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0008736	HP:0008736	Hypoplasia of penis	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0008736	HP:0008736	Hypoplasia of penis	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0008736	HP:0008736	Hypoplasia of penis	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0008736	HP:0008736	Hypoplasia of penis	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0008736	HP:0008736	Hypoplasia of penis	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0008736	HP:0008736	Hypoplasia of penis	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	21
HP:0008736	HP:0008736	Hypoplasia of penis	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	21
HP:0008736	HP:0008736	Hypoplasia of penis	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	21
HP:0008736	HP:0008736	Hypoplasia of penis	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	86
HP:0008736	HP:0008736	Hypoplasia of penis	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0008736	HP:0008736	Hypoplasia of penis	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0008736	HP:0008736	Hypoplasia of penis	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0008736	HP:0008736	Hypoplasia of penis	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0008736	HP:0008736	Hypoplasia of penis	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia		8
HP:0008736	HP:0008736	Hypoplasia of penis	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	8
HP:0008736	HP:0008736	Hypoplasia of penis	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0008736	HP:0008736	Hypoplasia of penis	0	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0008736	HP:0008736	Hypoplasia of penis	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0008736	HP:0008736	Hypoplasia of penis	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0008736	HP:0008736	Hypoplasia of penis	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0008736	HP:0008736	Hypoplasia of penis	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0008736	HP:0008736	Hypoplasia of penis	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	148
HP:0008736	HP:0008736	Hypoplasia of penis	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	48
HP:0008736	HP:0008736	Hypoplasia of penis	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0008736	HP:0008736	Hypoplasia of penis	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0008736	HP:0008736	Hypoplasia of penis	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	3
HP:0008736	HP:0008736	Hypoplasia of penis	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0008736	HP:0008736	Hypoplasia of penis	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0008736	HP:0008736	Hypoplasia of penis	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0008736	HP:0008736	Hypoplasia of penis	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0008736	HP:0008736	Hypoplasia of penis	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	52
HP:0008736	HP:0008736	Hypoplasia of penis	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0008736	HP:0008736	Hypoplasia of penis	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	120
HP:0008736	HP:0008736	Hypoplasia of penis	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome		111
HP:0008736	HP:0008736	Hypoplasia of penis	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome		111
HP:0008736	HP:0008736	Hypoplasia of penis	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0008736	HP:0008736	Hypoplasia of penis	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0008736	HP:0008736	Hypoplasia of penis	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0008736	Hypoplasia of penis	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0008736	HP:0008736	Hypoplasia of penis	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0008736	HP:0008736	Hypoplasia of penis	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0008736	HP:0008736	Hypoplasia of penis	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0008736	HP:0008736	Hypoplasia of penis	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0008736	HP:0008736	Hypoplasia of penis	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0008736	HP:0008736	Hypoplasia of penis	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0008736	HP:0008736	Hypoplasia of penis	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0008736	HP:0008736	Hypoplasia of penis	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0008736	HP:0008736	Hypoplasia of penis	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0008736	HP:0008736	Hypoplasia of penis	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0008736	HP:0008736	Hypoplasia of penis	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0008736	HP:0008736	Hypoplasia of penis	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0008736	HP:0008736	Hypoplasia of penis	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0008736	HP:0008736	Hypoplasia of penis	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0008736	HP:0008736	Hypoplasia of penis	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	42
HP:0008736	HP:0008736	Hypoplasia of penis	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0008736	HP:0008736	Hypoplasia of penis	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0008736	HP:0008736	Hypoplasia of penis	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0008736	HP:0008736	Hypoplasia of penis	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0008736	HP:0008736	Hypoplasia of penis	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0008736	HP:0008736	Hypoplasia of penis	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0008736	HP:0008736	Hypoplasia of penis	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0008736	HP:0008736	Hypoplasia of penis	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	43
HP:0008736	HP:0008736	Hypoplasia of penis	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	88
HP:0008736	HP:0008736	Hypoplasia of penis	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome		88
HP:0008736	HP:0008736	Hypoplasia of penis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0008736	HP:0008736	Hypoplasia of penis	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0008736	HP:0008736	Hypoplasia of penis	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0008736	HP:0008736	Hypoplasia of penis	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	62
HP:0008736	HP:0008736	Hypoplasia of penis	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0008736	HP:0008736	Hypoplasia of penis	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	4
HP:0008736	HP:0008736	Hypoplasia of penis	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0008736	HP:0008736	Hypoplasia of penis	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0008736	HP:0008736	Hypoplasia of penis	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0008736	HP:0008736	Hypoplasia of penis	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0008736	HP:0008736	Hypoplasia of penis	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	53
HP:0008736	HP:0008736	Hypoplasia of penis	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0008736	HP:0008736	Hypoplasia of penis	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040283 - Occasional	252
HP:0008736	HP:0008736	Hypoplasia of penis	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0008736	HP:0008736	Hypoplasia of penis	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0008736	HP:0008736	Hypoplasia of penis	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0008736	HP:0008736	Hypoplasia of penis	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	75
HP:0008736	HP:0008736	Hypoplasia of penis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0008736	HP:0008736	Hypoplasia of penis	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	69
HP:0008736	HP:0008736	Hypoplasia of penis	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0008736	Hypoplasia of penis	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	127
HP:0008736	HP:0008736	Hypoplasia of penis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0008736	HP:0008736	Hypoplasia of penis	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040283 - Occasional	17
HP:0008736	HP:0008736	Hypoplasia of penis	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		185
HP:0008736	HP:0008736	Hypoplasia of penis	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0008736	HP:0008736	Hypoplasia of penis	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0008736	HP:0008736	Hypoplasia of penis	0	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0008736	HP:0008736	Hypoplasia of penis	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0008736	HP:0008736	Hypoplasia of penis	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0008736	HP:0008736	Hypoplasia of penis	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0008736	HP:0008736	Hypoplasia of penis	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0008736	HP:0008736	Hypoplasia of penis	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0008736	HP:0008736	Hypoplasia of penis	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0008736	HP:0008736	Hypoplasia of penis	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0008736	HP:0008736	Hypoplasia of penis	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	85
HP:0008736	HP:0008736	Hypoplasia of penis	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0008736	HP:0008736	Hypoplasia of penis	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	58
HP:0008736	HP:0008736	Hypoplasia of penis	0	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	38
HP:0008736	HP:0008736	Hypoplasia of penis	0	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0008736	HP:0008736	Hypoplasia of penis	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0008736	HP:0008736	Hypoplasia of penis	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0008736	HP:0008736	Hypoplasia of penis	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	544
HP:0008736	HP:0008736	Hypoplasia of penis	0	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia		6
HP:0008736	HP:0008736	Hypoplasia of penis	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0008736	HP:0008736	Hypoplasia of penis	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	201
HP:0008736	HP:0008736	Hypoplasia of penis	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0008736	HP:0008736	Hypoplasia of penis	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0008736	HP:0008736	Hypoplasia of penis	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0008736	HP:0008736	Hypoplasia of penis	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0008736	HP:0008736	Hypoplasia of penis	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0008736	HP:0008736	Hypoplasia of penis	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0008736	HP:0008736	Hypoplasia of penis	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0008736	HP:0008736	Hypoplasia of penis	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008736	HP:0008736	Hypoplasia of penis	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0008736	HP:0008736	Hypoplasia of penis	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5		41
HP:0008736	HP:0008736	Hypoplasia of penis	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	41
HP:0008736	HP:0008736	Hypoplasia of penis	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	231
HP:0008736	HP:0008736	Hypoplasia of penis	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:0008736	HP:0008736	Hypoplasia of penis	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	116
HP:0008736	HP:0008736	Hypoplasia of penis	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	126
HP:0008736	HP:0008736	Hypoplasia of penis	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	18
HP:0008736	HP:0008736	Hypoplasia of penis	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0008736	HP:0008736	Hypoplasia of penis	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0008736	HP:0008736	Hypoplasia of penis	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0008736	HP:0008736	Hypoplasia of penis	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0008736	HP:0008736	Hypoplasia of penis	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0008736	HP:0008736	Hypoplasia of penis	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040282 - Frequent	103
HP:0008736	HP:0008736	Hypoplasia of penis	0	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome		103
HP:0008736	HP:0008736	Hypoplasia of penis	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.	103
HP:0008736	HP:0008736	Hypoplasia of penis	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0008736	HP:0008736	Hypoplasia of penis	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0008736	HP:0008736	Hypoplasia of penis	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0008736	HP:0008736	Hypoplasia of penis	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	180
HP:0008736	HP:0008736	Hypoplasia of penis	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0008736	HP:0008736	Hypoplasia of penis	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0008736	HP:0008736	Hypoplasia of penis	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0008736	HP:0008736	Hypoplasia of penis	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0008736	HP:0008736	Hypoplasia of penis	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0008736	HP:0008736	Hypoplasia of penis	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0008736	HP:0008736	Hypoplasia of penis	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2		221
HP:0008736	HP:0008736	Hypoplasia of penis	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0008736	HP:0008736	Hypoplasia of penis	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0008736	HP:0008736	Hypoplasia of penis	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0008736	HP:0008736	Hypoplasia of penis	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	39
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0008736	HP:0008736	Hypoplasia of penis	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia		9
HP:0008736	HP:0008736	Hypoplasia of penis	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0008736	HP:0008736	Hypoplasia of penis	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0008736	HP:0008736	Hypoplasia of penis	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0008736	HP:0008736	Hypoplasia of penis	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0008736	HP:0008736	Hypoplasia of penis	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0008736	HP:0008736	Hypoplasia of penis	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	34
HP:0008736	HP:0008736	Hypoplasia of penis	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	34
HP:0008736	HP:0008736	Hypoplasia of penis	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	110
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	70
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	51
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	94
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	159
HP:0008736	HP:0008736	Hypoplasia of penis	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0008736	HP:0008736	Hypoplasia of penis	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0008736	HP:0008736	Hypoplasia of penis	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0008736	HP:0008736	Hypoplasia of penis	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0008736	HP:0008736	Hypoplasia of penis	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0008736	HP:0008736	Hypoplasia of penis	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0008736	Hypoplasia of penis	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0008736	Hypoplasia of penis	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0008736	HP:0008736	Hypoplasia of penis	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0008736	HP:0008736	Hypoplasia of penis	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0008736	HP:0008736	Hypoplasia of penis	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0008736	HP:0008736	Hypoplasia of penis	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0008736	HP:0008736	Hypoplasia of penis	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0008736	HP:0008736	Hypoplasia of penis	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0008736	HP:0008736	Hypoplasia of penis	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	108
HP:0008736	HP:0008736	Hypoplasia of penis	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0008736	HP:0008736	Hypoplasia of penis	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0008736	HP:0008736	Hypoplasia of penis	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0008736	HP:0008736	Hypoplasia of penis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0008736	HP:0008736	Hypoplasia of penis	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	107
HP:0008736	HP:0008736	Hypoplasia of penis	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0008736	HP:0008736	Hypoplasia of penis	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0008736	HP:0008736	Hypoplasia of penis	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0008736	HP:0008736	Hypoplasia of penis	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0008736	HP:0008736	Hypoplasia of penis	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0008736	HP:0008736	Hypoplasia of penis	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0008736	HP:0008736	Hypoplasia of penis	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0008736	HP:0008736	Hypoplasia of penis	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0008736	HP:0008736	Hypoplasia of penis	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0008736	HP:0008736	Hypoplasia of penis	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0008736	HP:0008736	Hypoplasia of penis	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	7
HP:0008736	HP:0008736	Hypoplasia of penis	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	38
HP:0008736	HP:0008736	Hypoplasia of penis	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	120
HP:0008736	HP:0008736	Hypoplasia of penis	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0008736	HP:0008736	Hypoplasia of penis	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0008736	HP:0008736	Hypoplasia of penis	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	111
HP:0008736	HP:0008736	Hypoplasia of penis	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	284
HP:0008736	HP:0008736	Hypoplasia of penis	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0008736	HP:0008736	Hypoplasia of penis	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0008736	HP:0008736	Hypoplasia of penis	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0008736	HP:0008736	Hypoplasia of penis	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	200
HP:0008736	HP:0008736	Hypoplasia of penis	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0008736	HP:0008736	Hypoplasia of penis	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0008736	HP:0008736	Hypoplasia of penis	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0008736	HP:0008736	Hypoplasia of penis	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	32
HP:0008736	HP:0008736	Hypoplasia of penis	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0008736	HP:0008736	Hypoplasia of penis	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0008736	HP:0008736	Hypoplasia of penis	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0008736	HP:0008736	Hypoplasia of penis	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0008736	HP:0008736	Hypoplasia of penis	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040281 - Very frequent	80
HP:0008736	HP:0008736	Hypoplasia of penis	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008736	HP:0008736	Hypoplasia of penis	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0008736	HP:0008736	Hypoplasia of penis	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0008736	HP:0008736	Hypoplasia of penis	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	61
HP:0008736	HP:0008736	Hypoplasia of penis	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0008736	HP:0008736	Hypoplasia of penis	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	14
HP:0008736	HP:0008736	Hypoplasia of penis	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0008736	HP:0008736	Hypoplasia of penis	0	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		16
HP:0008736	HP:0008736	Hypoplasia of penis	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0008736	HP:0008736	Hypoplasia of penis	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0008736	HP:0008736	Hypoplasia of penis	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0008736	HP:0008736	Hypoplasia of penis	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0008736	HP:0008736	Hypoplasia of penis	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0008736	HP:0008736	Hypoplasia of penis	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0008736	HP:0008736	Hypoplasia of penis	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0008736	HP:0008736	Hypoplasia of penis	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0008736	HP:0008736	Hypoplasia of penis	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0008736	HP:0008736	Hypoplasia of penis	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0008736	HP:0008736	Hypoplasia of penis	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0008736	HP:0008736	Hypoplasia of penis	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0008736	HP:0008736	Hypoplasia of penis	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0008736	HP:0008736	Hypoplasia of penis	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0008736	HP:0008736	Hypoplasia of penis	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0008736	HP:0008736	Hypoplasia of penis	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0008736	HP:0008736	Hypoplasia of penis	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0008736	HP:0008736	Hypoplasia of penis	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0008736	HP:0008736	Hypoplasia of penis	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0008736	HP:0008736	Hypoplasia of penis	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0008736	HP:0008736	Hypoplasia of penis	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	174
HP:0008736	HP:0008736	Hypoplasia of penis	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0008736	HP:0008736	Hypoplasia of penis	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0008736	Hypoplasia of penis	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0008736	Hypoplasia of penis	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	83
HP:0008736	HP:0008736	Hypoplasia of penis	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	61
HP:0008736	HP:0008736	Hypoplasia of penis	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional	33
HP:0008736	HP:0008736	Hypoplasia of penis	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0008736	HP:0008736	Hypoplasia of penis	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	33
HP:0008736	HP:0008736	Hypoplasia of penis	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	24
HP:0008736	HP:0008736	Hypoplasia of penis	0	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	109
HP:0008736	HP:0008736	Hypoplasia of penis	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0008736	HP:0008736	Hypoplasia of penis	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0008736	HP:0008736	Hypoplasia of penis	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0008736	HP:0008736	Hypoplasia of penis	0	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	5
HP:0008736	HP:0008736	Hypoplasia of penis	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0008736	HP:0008736	Hypoplasia of penis	0	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0008736	HP:0008736	Hypoplasia of penis	0	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:0008736	HP:0008736	Hypoplasia of penis	0	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0008736	HP:0008736	Hypoplasia of penis	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0008736	HP:0008736	Hypoplasia of penis	0	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	23
HP:0008736	HP:0008736	Hypoplasia of penis	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0008736	HP:0008736	Hypoplasia of penis	0	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG		21
HP:0008736	HP:0008736	Hypoplasia of penis	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix		18
HP:0008736	HP:0008736	Hypoplasia of penis	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG		18
HP:0008736	HP:0008736	Hypoplasia of penis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0008736	HP:0008736	Hypoplasia of penis	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0008736	HP:0008736	Hypoplasia of penis	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0008736	HP:0008736	Hypoplasia of penis	0	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia		34
HP:0008736	HP:0008736	Hypoplasia of penis	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0008736	HP:0008736	Hypoplasia of penis	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0008736	HP:0008736	Hypoplasia of penis	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0008736	HP:0008736	Hypoplasia of penis	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0008736	HP:0008736	Hypoplasia of penis	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0008736	HP:0008736	Hypoplasia of penis	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040283 - Occasional	52
HP:0008736	HP:0008736	Hypoplasia of penis	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0008736	HP:0008736	Hypoplasia of penis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0008736	HP:0008736	Hypoplasia of penis	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040282 - Frequent	100
HP:0008736	HP:0008736	Hypoplasia of penis	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0008736	HP:0008736	Hypoplasia of penis	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0008736	HP:0008736	Hypoplasia of penis	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0008736	HP:0008736	Hypoplasia of penis	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0008736	HP:0008736	Hypoplasia of penis	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0008736	HP:0008736	Hypoplasia of penis	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0008736	HP:0008736	Hypoplasia of penis	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0008736	HP:0008736	Hypoplasia of penis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0008736	HP:0008736	Hypoplasia of penis	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0008736	HP:0008736	Hypoplasia of penis	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0008736	HP:0008736	Hypoplasia of penis	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	61
HP:0008736	HP:0008736	Hypoplasia of penis	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0008736	HP:0008736	Hypoplasia of penis	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0008736	HP:0008736	Hypoplasia of penis	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0008736	HP:0008736	Hypoplasia of penis	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0008736	HP:0008736	Hypoplasia of penis	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	108
HP:0008736	HP:0008736	Hypoplasia of penis	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0008736	HP:0008736	Hypoplasia of penis	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040281 - Very frequent	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	41
HP:0008736	HP:0008736	Hypoplasia of penis	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	41
HP:0008736	HP:0008736	Hypoplasia of penis	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0008736	HP:0008736	Hypoplasia of penis	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	66
HP:0008736	HP:0008736	Hypoplasia of penis	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0008736	HP:0008736	Hypoplasia of penis	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0008736	HP:0008736	Hypoplasia of penis	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0008736	HP:0008736	Hypoplasia of penis	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0008736	HP:0008736	Hypoplasia of penis	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0008736	HP:0008736	Hypoplasia of penis	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional	25
HP:0008736	HP:0008736	Hypoplasia of penis	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0008736	HP:0008736	Hypoplasia of penis	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0008736	HP:0008736	Hypoplasia of penis	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	777
HP:0008736	HP:0008736	Hypoplasia of penis	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0008736	HP:0008736	Hypoplasia of penis	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0008736	HP:0008736	Hypoplasia of penis	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008736	HP:0008736	Hypoplasia of penis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008736	HP:0008736	Hypoplasia of penis	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0008736	HP:0008736	Hypoplasia of penis	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	60
HP:0008736	HP:0008736	Hypoplasia of penis	0	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		10
HP:0008736	HP:0008736	Hypoplasia of penis	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	10
HP:0008736	HP:0008736	Hypoplasia of penis	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0008736	HP:0008736	Hypoplasia of penis	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent	10
HP:0008736	HP:0008736	Hypoplasia of penis	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0008736	HP:0008736	Hypoplasia of penis	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	98
HP:0008736	HP:0008736	Hypoplasia of penis	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0008736	HP:0008736	Hypoplasia of penis	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional	13
HP:0008736	HP:0008736	Hypoplasia of penis	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0008736	HP:0008736	Hypoplasia of penis	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040282 - Frequent	177
HP:0008736	HP:0008736	Hypoplasia of penis	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0008736	HP:0008736	Hypoplasia of penis	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	9
HP:0008736	HP:0008736	Hypoplasia of penis	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0008736	HP:0008736	Hypoplasia of penis	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	14
HP:0008736	HP:0008736	Hypoplasia of penis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0008736	HP:0008736	Hypoplasia of penis	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0008736	HP:0008736	Hypoplasia of penis	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0008736	HP:0008736	Hypoplasia of penis	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0008736	HP:0008736	Hypoplasia of penis	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0008736	HP:0008736	Hypoplasia of penis	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	27
HP:0008736	HP:0008736	Hypoplasia of penis	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0008736	HP:0000054	Micropenis	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0008736	HP:0000054	Micropenis	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0008736	HP:0000054	Micropenis	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0008736	HP:0000054	Micropenis	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0008736	HP:0000054	Micropenis	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0008736	HP:0000054	Micropenis	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0008736	HP:0000054	Micropenis	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0008736	HP:0000054	Micropenis	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0008736	HP:0000054	Micropenis	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	132
HP:0008736	HP:0000054	Micropenis	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0008736	HP:0000054	Micropenis	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	65
HP:0008736	HP:0000054	Micropenis	1	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	125
HP:0008736	HP:0000054	Micropenis	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0008736	HP:0000054	Micropenis	1	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome	.	125
HP:0008736	HP:0000054	Micropenis	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0008736	HP:0000054	Micropenis	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0008736	HP:0000054	Micropenis	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0008736	HP:0000054	Micropenis	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0008736	HP:0000054	Micropenis	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0008736	HP:0000054	Micropenis	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0008736	HP:0000054	Micropenis	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0008736	HP:0000054	Micropenis	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0008736	HP:0000054	Micropenis	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0008736	HP:0000054	Micropenis	1	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0008736	HP:0000054	Micropenis	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0008736	HP:0000054	Micropenis	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0008736	HP:0000054	Micropenis	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0008736	HP:0000054	Micropenis	1	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5		25
HP:0008736	HP:0000054	Micropenis	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0008736	HP:0000054	Micropenis	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0008736	HP:0000054	Micropenis	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0008736	HP:0000054	Micropenis	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0008736	HP:0000054	Micropenis	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0008736	HP:0000054	Micropenis	1	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0008736	HP:0000054	Micropenis	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0008736	HP:0000054	Micropenis	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0008736	HP:0000054	Micropenis	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0008736	HP:0000054	Micropenis	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0008736	HP:0000054	Micropenis	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0008736	HP:0000054	Micropenis	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0008736	HP:0000054	Micropenis	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0008736	HP:0000054	Micropenis	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0008736	HP:0000054	Micropenis	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0008736	HP:0030260	Microphallus	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0008736	HP:0000054	Micropenis	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0008736	HP:0000054	Micropenis	1	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	.	90
HP:0008736	HP:0000054	Micropenis	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0008736	HP:0000054	Micropenis	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0008736	HP:0000054	Micropenis	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0008736	HP:0000054	Micropenis	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	515
HP:0008736	HP:0000054	Micropenis	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0008736	HP:0030260	Microphallus	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0008736	HP:0000054	Micropenis	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0008736	HP:0000054	Micropenis	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0008736	HP:0000054	Micropenis	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0008736	HP:0000054	Micropenis	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0008736	HP:0000054	Micropenis	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0008736	HP:0000054	Micropenis	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0008736	HP:0000054	Micropenis	1	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:0008736	HP:0000054	Micropenis	1	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia	.	2
HP:0008736	HP:0000054	Micropenis	1	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:0008736	HP:0000054	Micropenis	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0008736	HP:0000054	Micropenis	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0008736	HP:0000054	Micropenis	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0008736	HP:0000054	Micropenis	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	36
HP:0008736	HP:0000054	Micropenis	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0008736	HP:0000054	Micropenis	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0008736	HP:0000054	Micropenis	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0008736	HP:0000054	Micropenis	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.	47
HP:0008736	HP:0000054	Micropenis	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0008736	HP:0000054	Micropenis	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008736	HP:0000054	Micropenis	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0008736	HP:0000054	Micropenis	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0008736	HP:0000054	Micropenis	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0008736	HP:0000054	Micropenis	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0008736	HP:0000054	Micropenis	1	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	4
HP:0008736	HP:0000054	Micropenis	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0008736	HP:0000054	Micropenis	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0008736	HP:0000054	Micropenis	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0008736	HP:0000054	Micropenis	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	.	14
HP:0008736	HP:0000054	Micropenis	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0008736	HP:0000054	Micropenis	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0008736	HP:0000054	Micropenis	1	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:0008736	HP:0000054	Micropenis	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0008736	HP:0000054	Micropenis	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0008736	HP:0000054	Micropenis	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0008736	HP:0000054	Micropenis	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0008736	HP:0000054	Micropenis	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0008736	HP:0000054	Micropenis	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent	8
HP:0008736	HP:0000054	Micropenis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0008736	HP:0000054	Micropenis	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0008736	HP:0000054	Micropenis	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0008736	HP:0000054	Micropenis	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0008736	HP:0000054	Micropenis	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	102
HP:0008736	HP:0000054	Micropenis	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0008736	HP:0000054	Micropenis	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0008736	HP:0000054	Micropenis	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0008736	HP:0030260	Microphallus	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0008736	HP:0000054	Micropenis	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0008736	HP:0000054	Micropenis	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0008736	HP:0000054	Micropenis	1	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia	.	2
HP:0008736	HP:0000054	Micropenis	1	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	2
HP:0008736	HP:0000054	Micropenis	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	2
HP:0008736	HP:0000054	Micropenis	1	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	3
HP:0008736	HP:0000054	Micropenis	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	3
HP:0008736	HP:0000054	Micropenis	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0008736	HP:0000054	Micropenis	1	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia	.	17
HP:0008736	HP:0000054	Micropenis	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	17
HP:0008736	HP:0000054	Micropenis	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0008736	HP:0000054	Micropenis	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0008736	HP:0000054	Micropenis	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.	172
HP:0008736	HP:0000054	Micropenis	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	172
HP:0008736	HP:0000054	Micropenis	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0008736	HP:0000054	Micropenis	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0008736	HP:0000054	Micropenis	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0008736	HP:0000054	Micropenis	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0008736	HP:0000054	Micropenis	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0008736	HP:0000054	Micropenis	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0008736	HP:0000054	Micropenis	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0008736	HP:0000054	Micropenis	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0008736	HP:0030260	Microphallus	1	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	.	87
HP:0008736	HP:0000054	Micropenis	1	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	.	87
HP:0008736	HP:0000054	Micropenis	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	.	173
HP:0008736	HP:0000054	Micropenis	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.	173
HP:0008736	HP:0000054	Micropenis	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0008736	HP:0000054	Micropenis	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.	270
HP:0008736	HP:0000054	Micropenis	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0008736	HP:0000054	Micropenis	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0008736	HP:0000054	Micropenis	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0008736	HP:0000054	Micropenis	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008736	HP:0000054	Micropenis	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0008736	HP:0000054	Micropenis	1	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	15
HP:0008736	HP:0000054	Micropenis	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0008736	HP:0000054	Micropenis	1	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	92
HP:0008736	HP:0000054	Micropenis	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0008736	HP:0000054	Micropenis	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0008736	HP:0000054	Micropenis	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0008736	HP:0000054	Micropenis	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0008736	HP:0000054	Micropenis	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0008736	HP:0000054	Micropenis	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0008736	HP:0000054	Micropenis	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0008736	HP:0000054	Micropenis	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0008736	HP:0000054	Micropenis	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0008736	HP:0000054	Micropenis	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	21
HP:0008736	HP:0000054	Micropenis	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0008736	HP:0030260	Microphallus	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0008736	HP:0000054	Micropenis	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0008736	HP:0000054	Micropenis	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0008736	HP:0000054	Micropenis	1	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia	.	8
HP:0008736	HP:0000054	Micropenis	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	8
HP:0008736	HP:0000054	Micropenis	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0008736	HP:0000054	Micropenis	1	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	.	34
HP:0008736	HP:0000054	Micropenis	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0008736	HP:0000054	Micropenis	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0008736	HP:0000054	Micropenis	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0008736	HP:0030260	Microphallus	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0008736	HP:0000054	Micropenis	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0008736	HP:0000054	Micropenis	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.	111
HP:0008736	HP:0000054	Micropenis	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040281 - Very frequent	111
HP:0008736	HP:0000054	Micropenis	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0008736	HP:0000054	Micropenis	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0008736	HP:0000054	Micropenis	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0000054	Micropenis	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0008736	HP:0000054	Micropenis	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0008736	HP:0000054	Micropenis	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0008736	HP:0000054	Micropenis	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0008736	HP:0000054	Micropenis	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0008736	HP:0000054	Micropenis	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0008736	HP:0000054	Micropenis	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0008736	HP:0000054	Micropenis	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0008736	HP:0000054	Micropenis	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0008736	HP:0000054	Micropenis	1	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0008736	HP:0000054	Micropenis	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0008736	HP:0000054	Micropenis	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0008736	HP:0000054	Micropenis	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0008736	HP:0000054	Micropenis	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0008736	HP:0000054	Micropenis	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0008736	HP:0000054	Micropenis	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0008736	HP:0000054	Micropenis	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0008736	HP:0000054	Micropenis	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0008736	HP:0000054	Micropenis	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0008736	HP:0000054	Micropenis	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0008736	HP:0000054	Micropenis	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.	88
HP:0008736	HP:0000054	Micropenis	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0008736	HP:0000054	Micropenis	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0008736	HP:0000054	Micropenis	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0008736	HP:0000054	Micropenis	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0008736	HP:0000054	Micropenis	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0008736	HP:0000054	Micropenis	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0008736	HP:0000054	Micropenis	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0008736	HP:0000054	Micropenis	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0008736	HP:0000054	Micropenis	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0008736	HP:0000054	Micropenis	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0008736	HP:0000054	Micropenis	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0008736	HP:0000054	Micropenis	1	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	5
HP:0008736	HP:0000054	Micropenis	1	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	5
HP:0008736	HP:0000054	Micropenis	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0008736	HP:0000054	Micropenis	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0008736	HP:0000054	Micropenis	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0008736	HP:0000054	Micropenis	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0008736	HP:0000054	Micropenis	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0008736	HP:0000054	Micropenis	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0008736	HP:0030260	Microphallus	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0008736	HP:0000054	Micropenis	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0008736	HP:0000054	Micropenis	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0008736	HP:0000054	Micropenis	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0000054	Micropenis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0008736	HP:0000054	Micropenis	1	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	185
HP:0008736	HP:0000054	Micropenis	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0008736	HP:0000054	Micropenis	1	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0008736	HP:0000054	Micropenis	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0008736	HP:0000054	Micropenis	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0008736	HP:0000054	Micropenis	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0008736	HP:0000054	Micropenis	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0008736	HP:0000054	Micropenis	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0008736	HP:0000054	Micropenis	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0008736	HP:0000054	Micropenis	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0008736	HP:0000054	Micropenis	1	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4	.	38
HP:0008736	HP:0000054	Micropenis	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0008736	HP:0000054	Micropenis	1	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia	.	6
HP:0008736	HP:0000054	Micropenis	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0008736	HP:0000054	Micropenis	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0008736	HP:0000054	Micropenis	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0008736	HP:0030260	Microphallus	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0008736	HP:0000054	Micropenis	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0008736	HP:0000054	Micropenis	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0008736	HP:0000054	Micropenis	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008736	HP:0000054	Micropenis	1	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	HP:0040283 - Occasional	41
HP:0008736	HP:0000054	Micropenis	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:0008736	HP:0000054	Micropenis	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	2
HP:0008736	HP:0000054	Micropenis	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0008736	HP:0000054	Micropenis	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0008736	HP:0000054	Micropenis	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0008736	HP:0000054	Micropenis	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0008736	HP:0000054	Micropenis	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0008736	HP:0030260	Microphallus	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0008736	HP:0000054	Micropenis	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0008736	HP:0000054	Micropenis	1	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.	103
HP:0008736	HP:0000054	Micropenis	1	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:0008736	HP:0000054	Micropenis	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0008736	HP:0000054	Micropenis	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0008736	HP:0000054	Micropenis	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0008736	HP:0000054	Micropenis	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0008736	HP:0000054	Micropenis	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0008736	HP:0000054	Micropenis	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0008736	HP:0000054	Micropenis	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0008736	HP:0000054	Micropenis	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0008736	HP:0000054	Micropenis	1	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	.	9
HP:0008736	HP:0000054	Micropenis	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0008736	HP:0000054	Micropenis	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0008736	HP:0000054	Micropenis	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.	34
HP:0008736	HP:0000054	Micropenis	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0008736	HP:0000054	Micropenis	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0008736	HP:0000054	Micropenis	1	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0008736	HP:0000054	Micropenis	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0008736	HP:0000054	Micropenis	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0008736	HP:0000054	Micropenis	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0000054	Micropenis	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0000054	Micropenis	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0008736	HP:0000054	Micropenis	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0008736	HP:0000054	Micropenis	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0008736	HP:0000054	Micropenis	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0008736	HP:0000054	Micropenis	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0008736	HP:0000054	Micropenis	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0008736	HP:0000054	Micropenis	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0008736	HP:0000054	Micropenis	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0008736	HP:0000054	Micropenis	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0008736	HP:0000054	Micropenis	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0008736	HP:0000054	Micropenis	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0008736	HP:0000054	Micropenis	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0008736	HP:0000054	Micropenis	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0008736	HP:0000054	Micropenis	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0008736	HP:0000054	Micropenis	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0008736	HP:0030260	Microphallus	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0008736	HP:0000054	Micropenis	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0008736	HP:0030260	Microphallus	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0008736	HP:0000054	Micropenis	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0008736	HP:0000054	Micropenis	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0008736	HP:0000054	Micropenis	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0008736	HP:0000054	Micropenis	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0008736	HP:0000054	Micropenis	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	.	14
HP:0008736	HP:0000054	Micropenis	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	14
HP:0008736	HP:0000054	Micropenis	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	16
HP:0008736	HP:0000054	Micropenis	1	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	16
HP:0008736	HP:0000054	Micropenis	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0008736	HP:0000054	Micropenis	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0008736	HP:0000054	Micropenis	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0008736	HP:0000054	Micropenis	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0008736	HP:0000054	Micropenis	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0008736	HP:0030260	Microphallus	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0008736	HP:0030260	Microphallus	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0008736	HP:0000054	Micropenis	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0008736	HP:0000054	Micropenis	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0008736	HP:0000054	Micropenis	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0008736	HP:0000054	Micropenis	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0008736	HP:0000054	Micropenis	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0008736	HP:0000054	Micropenis	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0008736	HP:0000054	Micropenis	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0008736	HP:0000054	Micropenis	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0000054	Micropenis	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0008736	HP:0000054	Micropenis	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	61
HP:0008736	HP:0000054	Micropenis	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0008736	HP:0000054	Micropenis	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0008736	HP:0000054	Micropenis	1	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	5
HP:0008736	HP:0000054	Micropenis	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	5
HP:0008736	HP:0000054	Micropenis	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0008736	HP:0000054	Micropenis	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0008736	HP:0000054	Micropenis	1	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0008736	HP:0000054	Micropenis	1	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias	.	86
HP:0008736	HP:0000054	Micropenis	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0008736	HP:0000054	Micropenis	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0008736	HP:0000054	Micropenis	1	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG	HP:0040282 - Frequent	21
HP:0008736	HP:0000054	Micropenis	1	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.	18
HP:0008736	HP:0000054	Micropenis	1	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040282 - Frequent	18
HP:0008736	HP:0000054	Micropenis	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0008736	HP:0000054	Micropenis	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0008736	HP:0030260	Microphallus	1	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia	.	34
HP:0008736	HP:0000054	Micropenis	1	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia	.	34
HP:0008736	HP:0000054	Micropenis	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0008736	HP:0000054	Micropenis	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0008736	HP:0000054	Micropenis	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0008736	HP:0000054	Micropenis	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0008736	HP:0000054	Micropenis	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0008736	HP:0000054	Micropenis	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0008736	HP:0000054	Micropenis	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0008736	HP:0000054	Micropenis	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0008736	HP:0000054	Micropenis	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional	241
HP:0008736	HP:0000054	Micropenis	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0008736	HP:0030260	Microphallus	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0008736	HP:0000054	Micropenis	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0008736	HP:0000054	Micropenis	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0008736	HP:0030260	Microphallus	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0008736	HP:0000054	Micropenis	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0008736	HP:0000054	Micropenis	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0008736	HP:0000054	Micropenis	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0008736	HP:0000054	Micropenis	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0008736	HP:0000054	Micropenis	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0008736	HP:0000054	Micropenis	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0008736	HP:0000054	Micropenis	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0008736	HP:0030260	Microphallus	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0008736	HP:0000054	Micropenis	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0008736	HP:0000054	Micropenis	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0008736	HP:0000054	Micropenis	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0008736	HP:0000054	Micropenis	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0008736	HP:0000054	Micropenis	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0008736	HP:0000054	Micropenis	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0008736	HP:0000054	Micropenis	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0008736	HP:0000054	Micropenis	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome	.	2
HP:0008736	HP:0000054	Micropenis	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0008736	HP:0000054	Micropenis	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008736	HP:0000054	Micropenis	1	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	10
HP:0008736	HP:0000054	Micropenis	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	10
HP:0008736	HP:0000054	Micropenis	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0008736	HP:0000054	Micropenis	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0008736	HP:0000054	Micropenis	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0008736	HP:0000054	Micropenis	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0008736	HP:0000054	Micropenis	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0008736	HP:0000054	Micropenis	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0008736	HP:0000054	Micropenis	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0008736	HP:0000054	Micropenis	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0008736	HP:0000054	Micropenis	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF

Genes (476) :ABCA4 ACTA1 ACTB ADAR ADAT3 AGBL5 AHI1 AHR ALG12 ALKBH8 ALMS1 ALX4 ANK1 ANOS1 AR ARCN1 ARHGEF18 ARL2BP ARL3 ARL6 ARNT2 ARX ATAD3A ATP6V1A ATRX AXL B3GALNT2 B4GAT1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BEST1 BLTP1 BRD4 BUB1B BUD23 C2CD3 CA4 CAMK2A CASK CASZ1 CCDC141 CCDC22 CCDC28B CDC42BPB CDC45 CDC6 CDH11 CDH2 CDHR1 CDKL5 CDKN1C CDON CDT1 CENPT CEP19 CEP290 CEP41 CERKL CFAP418 CHD4 CHD7 CHRNG CILK1 CLIP2 CLRN1 CNGA1 CNGB1 COG5 COL4A1 COLEC10 COX7B CPE CRB1 CRPPA CRX CTU2 CUL4B CYB5A CYP17A1 DACT1 DAG1 DCAF17 DCC DCX DDX6 DHCR7 DHDDS DHODH DHX37 DHX38 DIS3L2 DISP1 DLL1 DMRT3 DMXL2 DNAJC19 DNAJC30 DPYSL5 DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBF3 ECE1 EED EHMT1 EIF2S3 EIF4H ELN ERCC2 ERCC6 ERCC8 EXT2 EYS EZH2 FAM111A FAM161A FANCB FANCD2 FANCF FANCL FAT4 FEZF1 FGF17 FGF8 FGFR1 FIG4 FKBP6 FKRP FKTN FLRT3 FOXH1 FRAS1 FREM2 FSCN2 FZD2 GABRD GAS1 GATA4 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 IFIH1 IFT140 IFT172 IFT27 IFT74 IFT80 IFT88 IGF2 IL17RD IMPDH1 IMPG1 IMPG2 INPP5E INTU IPW ISL1 KAT6B KATNIP KCNA1 KCNAB2 KDM5C KDM6A KIAA0586 KIAA0753 KIAA1549 KIF7 KISS1 KISS1R KIZ KLF1 KLHL15 KLHL40 KLHL41 KLHL7 KMT2D LAMA5 LARGE1 LEP LHB LHX4 LIG4 LIMK1 LMNB2 LMOD3 LMX1B LRAT LSM11 LSS LUZP1 LZTFL1 MADD MAGEL2 MAK MAMLD1 MAP3K1 MBD5 MCTP2 MED12 MEGF8 MERTK METTL27 MID1 MINPP1 MKKS MKRN3 MKRN3-AS1 MKS1 MLXIPL MMP23B MNX1 MTM1 MYH3 MYRF NCF1 NDNF NDUFB11 NEB NEK1 NEK2 NEUROD2 NIPBL NODAL NPAP1 NPHP1 NR0B1 NR2E3 NR5A1 NRL NSD1 NSMF NXN OFD1 OPHN1 ORC1 ORC4 ORC6 OTUD5 OTX2 PAFAH1B1 PBX1 PCARE PDE6A PDE6B PDE6G PDPN PHF21A PHF6 PIEZO2 PIGA PIGP PIGQ PLAG1 PNKP PNPLA6 POLE POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PPP1R12A PRCD PRDM13 PRDM16 PRKCZ PRKDC PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRRX1 PSMC1 PSMD12 PTCH1 PTPN11 PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 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 RSPO2 RTTN RXYLT1 RYR1 SAG SALL1 SAMD9 SAMHD1 SATB2 SC5D SCAPER SCN1B SCN2A SDCCAG8 SEMA3A SEMA3E SEMA4A SETBP1 SGPL1 SHH SIK1 SIM1 SIN3A SIX3 SIX6 SKI SLC25A22 SLC25A24 SLC29A3 SLC7A14 SMC1A SMC3 SMCHD1 SMO SNORD115-1 SNORD116-1 SNRNP200 SOX10 SOX2 SOX3 SOX9 SPATA7 SPEN SPRY4 SPTBN1 SRA1 SRD5A2 SRY STT3A STT3B STX1A STXBP1 SUFU SUZ12 TAC3 TACR3 TAPT1 TBC1D20 TBCE TBL1XR1 TBL2 TBX3 TCF12 TCF4 TCOF1 TDGF1 TGIF1 THOC2 THOC6 TMEM270 TOE1 TOGARAM1 TOPORS TP63 TREX1 TRIM32 TRIM8 TRRAP TSPYL1 TTC8 TUB TULP1 TWIST2 UBA1 UBE2A UBE4B UBR1 UBR7 USH2A USP7 VAC14 VAMP7 VPS37D WASHC5 WDPCP WDR11 WDR35 WNT5A WNT7A WT1 WWOX XRCC4 YWHAE ZEB2 ZFPM2 ZIC2 ZNF408 ZNF513 ZPR1

Diseases (293) :ORPHA:791 ORPHA:171430 OMIM:243310 ORPHA:51 ORPHA:363528 ORPHA:79324 OMIM:607143 OMIM:618504 ORPHA:64 ORPHA:52022 ORPHA:251066 OMIM:308700 ORPHA:478 ORPHA:95706 ORPHA:90797 OMIM:312300 OMIM:617164 ORPHA:110 OMIM:209900 ORPHA:3157 OMIM:308350 ORPHA:1934 OMIM:300215 ORPHA:452 OMIM:618810 OMIM:617403 ORPHA:847 OMIM:301040 OMIM:309580 OMIM:146110 ORPHA:899 OMIM:615287 OMIM:614175 ORPHA:904 OMIM:615983 OMIM:617822 ORPHA:199 OMIM:257300 OMIM:615948 OMIM:617798 ORPHA:1606 ORPHA:7 OMIM:619841 ORPHA:2554 OMIM:617063 OMIM:613805 ORPHA:1299 OMIM:618929 OMIM:614732 ORPHA:397590 ORPHA:280200 ORPHA:95496 OMIM:618702 OMIM:614464 OMIM:617159 OMIM:214800 ORPHA:138 ORPHA:432 ORPHA:2990 OMIM:612651 ORPHA:263487 OMIM:248340 OMIM:309801 OMIM:619326 OMIM:618142 OMIM:300354 ORPHA:85293 ORPHA:90796 OMIM:250790 ORPHA:90793 ORPHA:857 ORPHA:3464 OMIM:241080 OMIM:300067 OMIM:618653 OMIM:270400 ORPHA:818 OMIM:613861 OMIM:263750 ORPHA:251510 ORPHA:983 ORPHA:2849 ORPHA:66634 OMIM:619435 OMIM:619847 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:613091 ORPHA:93271 ORPHA:268261 ORPHA:464311 OMIM:617330 OMIM:613870 ORPHA:3447 OMIM:610253 ORPHA:96147 OMIM:300148 ORPHA:85282 OMIM:194050 OMIM:610756 OMIM:133540 OMIM:216400 OMIM:602361 OMIM:300514 OMIM:227646 OMIM:603467 OMIM:614083 OMIM:615546 OMIM:616030 OMIM:612702 OMIM:615465 OMIM:147950 OMIM:216340 ORPHA:3472 ORPHA:370968 ORPHA:2052 OMIM:219000 ORPHA:93328 OMIM:164745 OMIM:615542 ORPHA:633 OMIM:615849 OMIM:610829 OMIM:146510 ORPHA:672 OMIM:220120 OMIM:619503 OMIM:614841 ORPHA:373 ORPHA:364028 OMIM:619951 OMIM:300882 ORPHA:457359 OMIM:176270 OMIM:619983 OMIM:620073 OMIM:140000 ORPHA:887 OMIM:614880 OMIM:201810 OMIM:309590 OMIM:619471 OMIM:610156 ORPHA:75858 OMIM:617926 OMIM:617925 ORPHA:93930 OMIM:606170 OMIM:616784 OMIM:300534 ORPHA:2322 OMIM:147920 OMIM:616546 OMIM:619479 OMIM:200990 OMIM:614837 OMIM:613673 OMIM:300982 OMIM:620076 OMIM:614962 OMIM:228300 ORPHA:99812 OMIM:606593 OMIM:619180 ORPHA:495818 OMIM:618840 OMIM:615994 OMIM:619004 OMIM:619005 ORPHA:398069 OMIM:615547 ORPHA:456328 ORPHA:228402 OMIM:156200 ORPHA:1596 OMIM:300895 OMIM:614976 OMIM:300000 ORPHA:284339 ORPHA:1552 OMIM:618280 OMIM:618841 OMIM:263520 ORPHA:2138 OMIM:617480 OMIM:614838 ORPHA:1507 OMIM:300209 OMIM:300486 OMIM:224690 OMIM:613803 OMIM:301056 ORPHA:990 OMIM:610125 ORPHA:217385 OMIM:617641 OMIM:301900 ORPHA:127 OMIM:248700 OMIM:300868 ORPHA:2377 OMIM:245800 OMIM:275400 OMIM:618336 ORPHA:861 OMIM:613156 OMIM:201750 ORPHA:95699 OMIM:618820 OMIM:619761 OMIM:615966 OMIM:610628 OMIM:244200 OMIM:620071 OMIM:617516 OMIM:151100 ORPHA:2510 OMIM:614222 OMIM:212720 OMIM:614225 OMIM:263650 OMIM:300978 OMIM:300953 OMIM:210710 OMIM:619487 OMIM:113000 OMIM:268310 OMIM:618021 ORPHA:468631 ORPHA:98905 OMIM:617053 ORPHA:251028 ORPHA:46059 OMIM:614897 OMIM:269150 ORPHA:798 OMIM:617575 ORPHA:398079 ORPHA:94065 OMIM:613406 OMIM:206900 OMIM:612289 ORPHA:168569 OMIM:602782 OMIM:603457 ORPHA:2250 OMIM:241800 ORPHA:77298 OMIM:619475 ORPHA:753 OMIM:264600 ORPHA:1772 ORPHA:370921 OMIM:615597 ORPHA:370924 OMIM:614840 OMIM:616897 OMIM:615663 OMIM:241410 ORPHA:2323 OMIM:602342 OMIM:181450 ORPHA:3138 OMIM:619718 ORPHA:2896 OMIM:610954 OMIM:300957 ORPHA:457240 ORPHA:363444 OMIM:614969 OMIM:619185 OMIM:106260 OMIM:604292 OMIM:618454 ORPHA:168593 ORPHA:920 OMIM:200110 OMIM:301830 OMIM:300860 ORPHA:163956 ORPHA:2315 OMIM:243800 OMIM:619189 ORPHA:500055 OMIM:616863 ORPHA:2879 ORPHA:3097 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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