Human Phenotype Ontology

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

Grandparent Node:
Abnormal nipple morphology (HP:0004404)

Parent Node:
Abnormal intermamillary distance (HP:0040157)

..Starting node
..Wide intermamillary distance (HP:0006610)

Term ID:

6610

Name:

Wide intermamillary distance

Synonym:

Wide-spaced nipples; Widely spaced nipples; Widely-spaced nipples

Definition:

A larger than usual distance between the left and right nipple.

Comments:

Reference:

HP:0006610

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short intermamillary distance (HP:0040158)

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:0006610	HP:0006610	Wide intermamillary distance	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional	53
HP:0006610	HP:0006610	Wide intermamillary distance	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0006610	HP:0006610	Wide intermamillary distance	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0006610	HP:0006610	Wide intermamillary distance	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0006610	HP:0006610	Wide intermamillary distance	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0006610	HP:0006610	Wide intermamillary distance	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0006610	HP:0006610	Wide intermamillary distance	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0006610	HP:0006610	Wide intermamillary distance	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.	1
HP:0006610	HP:0006610	Wide intermamillary distance	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0006610	HP:0006610	Wide intermamillary distance	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0006610	HP:0006610	Wide intermamillary distance	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0006610	HP:0006610	Wide intermamillary distance	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0006610	HP:0006610	Wide intermamillary distance	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0006610	HP:0006610	Wide intermamillary distance	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0006610	HP:0006610	Wide intermamillary distance	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0006610	HP:0006610	Wide intermamillary distance	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0006610	HP:0006610	Wide intermamillary distance	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	HP:0040284 - Very rare	2
HP:0006610	HP:0006610	Wide intermamillary distance	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0006610	HP:0006610	Wide intermamillary distance	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0006610	HP:0006610	Wide intermamillary distance	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0006610	HP:0006610	Wide intermamillary distance	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0006610	HP:0006610	Wide intermamillary distance	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0006610	HP:0006610	Wide intermamillary distance	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0006610	HP:0006610	Wide intermamillary distance	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0006610	HP:0006610	Wide intermamillary distance	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0006610	HP:0006610	Wide intermamillary distance	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0006610	HP:0006610	Wide intermamillary distance	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0006610	HP:0006610	Wide intermamillary distance	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0006610	HP:0006610	Wide intermamillary distance	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0006610	HP:0006610	Wide intermamillary distance	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0006610	HP:0006610	Wide intermamillary distance	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0006610	HP:0006610	Wide intermamillary distance	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0006610	HP:0006610	Wide intermamillary distance	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0006610	HP:0006610	Wide intermamillary distance	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0006610	HP:0006610	Wide intermamillary distance	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0006610	HP:0006610	Wide intermamillary distance	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0006610	HP:0006610	Wide intermamillary distance	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0006610	HP:0006610	Wide intermamillary distance	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0006610	HP:0006610	Wide intermamillary distance	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0006610	HP:0006610	Wide intermamillary distance	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0006610	HP:0006610	Wide intermamillary distance	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006610	HP:0006610	Wide intermamillary distance	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0006610	HP:0006610	Wide intermamillary distance	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0006610	HP:0006610	Wide intermamillary distance	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0006610	HP:0006610	Wide intermamillary distance	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0006610	HP:0006610	Wide intermamillary distance	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006610	HP:0006610	Wide intermamillary distance	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0006610	HP:0006610	Wide intermamillary distance	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0006610	HP:0006610	Wide intermamillary distance	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0006610	HP:0006610	Wide intermamillary distance	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0006610	HP:0006610	Wide intermamillary distance	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0006610	HP:0006610	Wide intermamillary distance	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0006610	HP:0006610	Wide intermamillary distance	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent	268
HP:0006610	HP:0006610	Wide intermamillary distance	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	HP:0040284 - Very rare	268
HP:0006610	HP:0006610	Wide intermamillary distance	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0006610	HP:0006610	Wide intermamillary distance	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0006610	HP:0006610	Wide intermamillary distance	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0006610	HP:0006610	Wide intermamillary distance	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0006610	HP:0006610	Wide intermamillary distance	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0006610	HP:0006610	Wide intermamillary distance	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0006610	HP:0006610	Wide intermamillary distance	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0006610	HP:0006610	Wide intermamillary distance	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0006610	HP:0006610	Wide intermamillary distance	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0006610	HP:0006610	Wide intermamillary distance	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0006610	HP:0006610	Wide intermamillary distance	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0006610	HP:0006610	Wide intermamillary distance	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0006610	HP:0006610	Wide intermamillary distance	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0006610	HP:0006610	Wide intermamillary distance	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0006610	HP:0006610	Wide intermamillary distance	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0006610	HP:0006610	Wide intermamillary distance	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0006610	HP:0006610	Wide intermamillary distance	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0006610	HP:0006610	Wide intermamillary distance	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	HP:0040283 - Occasional	4
HP:0006610	HP:0006610	Wide intermamillary distance	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0006610	HP:0006610	Wide intermamillary distance	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0006610	HP:0006610	Wide intermamillary distance	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0006610	HP:0006610	Wide intermamillary distance	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0006610	HP:0006610	Wide intermamillary distance	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0006610	HP:0006610	Wide intermamillary distance	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0006610	HP:0006610	Wide intermamillary distance	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0006610	HP:0006610	Wide intermamillary distance	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0006610	HP:0006610	Wide intermamillary distance	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0006610	HP:0006610	Wide intermamillary distance	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0006610	HP:0006610	Wide intermamillary distance	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0006610	HP:0006610	Wide intermamillary distance	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0006610	HP:0006610	Wide intermamillary distance	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0006610	HP:0006610	Wide intermamillary distance	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0006610	HP:0006610	Wide intermamillary distance	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0006610	HP:0006610	Wide intermamillary distance	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0006610	HP:0006610	Wide intermamillary distance	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0006610	HP:0006610	Wide intermamillary distance	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0006610	HP:0006610	Wide intermamillary distance	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0006610	HP:0006610	Wide intermamillary distance	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0006610	HP:0006610	Wide intermamillary distance	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0006610	HP:0006610	Wide intermamillary distance	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0006610	HP:0006610	Wide intermamillary distance	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0006610	HP:0006610	Wide intermamillary distance	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0006610	HP:0006610	Wide intermamillary distance	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0006610	HP:0006610	Wide intermamillary distance	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0006610	HP:0006610	Wide intermamillary distance	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0006610	HP:0006610	Wide intermamillary distance	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0006610	HP:0006610	Wide intermamillary distance	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0006610	HP:0006610	Wide intermamillary distance	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0006610	HP:0006610	Wide intermamillary distance	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0006610	HP:0006610	Wide intermamillary distance	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0006610	HP:0006610	Wide intermamillary distance	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0006610	HP:0006610	Wide intermamillary distance	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0006610	HP:0006610	Wide intermamillary distance	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0006610	HP:0006610	Wide intermamillary distance	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0006610	HP:0006610	Wide intermamillary distance	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0006610	HP:0006610	Wide intermamillary distance	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0006610	HP:0006610	Wide intermamillary distance	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0006610	HP:0006610	Wide intermamillary distance	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0006610	HP:0006610	Wide intermamillary distance	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0006610	HP:0006610	Wide intermamillary distance	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0006610	HP:0006610	Wide intermamillary distance	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0006610	HP:0006610	Wide intermamillary distance	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0006610	HP:0006610	Wide intermamillary distance	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0006610	HP:0006610	Wide intermamillary distance	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0006610	HP:0006610	Wide intermamillary distance	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0006610	HP:0006610	Wide intermamillary distance	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0006610	HP:0006610	Wide intermamillary distance	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0006610	HP:0006610	Wide intermamillary distance	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0006610	HP:0006610	Wide intermamillary distance	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0006610	HP:0006610	Wide intermamillary distance	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0006610	HP:0006610	Wide intermamillary distance	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0006610	HP:0006610	Wide intermamillary distance	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0006610	HP:0006610	Wide intermamillary distance	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0006610	HP:0006610	Wide intermamillary distance	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0006610	HP:0006610	Wide intermamillary distance	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0006610	HP:0006610	Wide intermamillary distance	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0006610	HP:0006610	Wide intermamillary distance	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4

Genes (119) :ABCD4 ADNP ALG14 ALG9 AMER1 AMMECR1 ARCN1 ARHGEF2 ASH1L ASXL1 B3GLCT BRAF CBL CDH11 CDK13 CERT1 CHD7 CHST3 CILK1 COG1 COX7B CPT2 CSPP1 DHCR7 DLK1 DUSP6 EED ERCC6 ERMARD EXOC2 FGF17 FGF8 FGFR1 FRAS1 FREM2 GATA4 GNB2 GNPTAB GNRH1 GNRHR GPC3 GPC4 GRIP1 HDAC4 HNRNPK HS6ST1 IBA57 IDH1 IGF1R INTU KANSL1 KAT6A KATNB1 KIAA0586 KIFBP KISS1 KISS1R KNSTRN KRAS LAMA5 LBR LZTR1 MAB21L1 MADD MAP2K1 MAPRE2 MEG3 MEGF8 MRAS NECTIN1 NF1 NRAS NSD2 NSMF NUP188 OFD1 PACS1 PIGN PIK3CD PPP1CB PROK2 PROKR2 PSAT1 PTPN11 RAB18 RAF1 RASA2 RIPK4 RIT1 RRAS RRAS2 RTL1 SMARCA2 SMPD4 SMS SOS1 SOS2 SPRED2 SPRY4 SRY TAC3 TACR3 TBL1XR1 TFAP2A TIMM50 TMCO1 TMEM94 TOGARAM1 TP63 TRAF7 TTC5 TUBB UBE2A WASF1 WDR11 WDR37 WLS ZC4H2 ZNF148

Diseases (93) :OMIM:614857 ORPHA:404448 OMIM:619036 OMIM:608776 OMIM:300373 OMIM:300990 OMIM:617164 OMIM:617523 OMIM:617796 OMIM:605039 ORPHA:709 OMIM:261540 OMIM:613707 OMIM:163950 ORPHA:648 OMIM:613563 OMIM:211380 OMIM:617360 OMIM:616351 ORPHA:432 OMIM:143095 OMIM:612651 OMIM:611209 OMIM:300887 OMIM:608836 ORPHA:397715 ORPHA:818 ORPHA:96334 OMIM:617561 OMIM:214150 ORPHA:75857 OMIM:619306 OMIM:219000 ORPHA:2052 ORPHA:251071 OMIM:619503 OMIM:252500 OMIM:312870 ORPHA:1001 OMIM:616580 OMIM:615330 ORPHA:99646 ORPHA:73273 OMIM:270450 OMIM:617925 OMIM:610443 OMIM:616268 OMIM:616212 OMIM:609460 ORPHA:221139 OMIM:620076 OMIM:618019 OMIM:605275 OMIM:618479 OMIM:619004 OMIM:616734 OMIM:614976 ORPHA:3253 ORPHA:97685 OMIM:619695 OMIM:618804 OMIM:300209 ORPHA:329224 OMIM:615009 ORPHA:2059 OMIM:617506 OMIM:616038 OMIM:614222 OMIM:263650 ORPHA:3051 OMIM:618622 OMIM:309583 ORPHA:3063 OMIM:610733 ORPHA:1772 OMIM:602342 ORPHA:487825 OMIM:113620 OMIM:617698 OMIM:213980 OMIM:618316 OMIM:619185 OMIM:103285 OMIM:618164 OMIM:619244 OMIM:156610 OMIM:300860 ORPHA:163956 OMIM:618707 OMIM:618652 OMIM:619648 OMIM:301041 OMIM:617260

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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