Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Short stature (HP:0004322)

Parent Node:
Proportionate short stature (HP:0003508)

..Starting node
..Severe short stature (HP:0003510)

Term ID:

3510

Name:

Severe short stature

Synonym:

Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe

Definition:

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

Comments:

Reference:

HP:0003510

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mild short stature (HP:0003502)

Moderately short stature (HP:0008848)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003510	HP:0003510	Severe short stature	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0003510	HP:0003510	Severe short stature	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0003510	HP:0003510	Severe short stature	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0003510	HP:0003510	Severe short stature	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0003510	HP:0003510	Severe short stature	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0003510	HP:0003510	Severe short stature	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0003510	HP:0003510	Severe short stature	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003510	HP:0003510	Severe short stature	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0003510	HP:0003510	Severe short stature	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	HP:0003577 - Congenital onset	85
HP:0003510	HP:0003510	Severe short stature	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		85
HP:0003510	HP:0003510	Severe short stature	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0003510	HP:0003510	Severe short stature	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0003510	HP:0003510	Severe short stature	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0003510	HP:0003510	Severe short stature	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0003510	HP:0003510	Severe short stature	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent		7
HP:0003510	HP:0003510	Severe short stature	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0003510	HP:0003510	Severe short stature	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		243
HP:0003510	HP:0003510	Severe short stature	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.		284
HP:0003510	HP:0003510	Severe short stature	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent		284
HP:0003510	HP:0003510	Severe short stature	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.		89
HP:0003510	HP:0003510	Severe short stature	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0003510	HP:0003510	Severe short stature	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0003510	HP:0003510	Severe short stature	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0003510	HP:0003510	Severe short stature	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	.		51
HP:0003510	HP:0003510	Severe short stature	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0003510	HP:0003510	Severe short stature	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0003510	HP:0003510	Severe short stature	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0003510	HP:0003510	Severe short stature	0	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss	HP:0040283 - Occasional		3
HP:0003510	HP:0003510	Severe short stature	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0003510	HP:0003510	Severe short stature	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0003510	HP:0003510	Severe short stature	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0003510	HP:0003510	Severe short stature	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent		65
HP:0003510	HP:0003510	Severe short stature	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0003510	HP:0003510	Severe short stature	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0003510	HP:0003510	Severe short stature	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0003510	HP:0003510	Severe short stature	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0003510	HP:0003510	Severe short stature	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040281 - Very frequent		92
HP:0003510	HP:0003510	Severe short stature	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.		8
HP:0003510	HP:0003510	Severe short stature	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent		1361
HP:0003510	HP:0003510	Severe short stature	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.		1361
HP:0003510	HP:0003510	Severe short stature	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040281 - Very frequent		172
HP:0003510	HP:0003510	Severe short stature	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0003510	HP:0003510	Severe short stature	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.		233
HP:0003510	HP:0003510	Severe short stature	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0003510	HP:0003510	Severe short stature	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA	.		50
HP:0003510	HP:0003510	Severe short stature	0	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II	.		50
HP:0003510	HP:0003510	Severe short stature	0	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome	.		98
HP:0003510	HP:0003510	Severe short stature	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040281 - Very frequent		98
HP:0003510	HP:0003510	Severe short stature	0	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4			44
HP:0003510	HP:0003510	Severe short stature	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.		120
HP:0003510	HP:0003510	Severe short stature	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0003510	HP:0003510	Severe short stature	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0003510	HP:0003510	Severe short stature	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent		52
HP:0003510	HP:0003510	Severe short stature	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0003510	HP:0003510	Severe short stature	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0003510	HP:0003510	Severe short stature	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0003510	HP:0003510	Severe short stature	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0003510	HP:0003510	Severe short stature	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0003510	HP:0003510	Severe short stature	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040282 - Frequent		345
HP:0003510	HP:0003510	Severe short stature	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0003510	HP:0003510	Severe short stature	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		7
HP:0003510	HP:0003510	Severe short stature	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent		18
HP:0003510	HP:0003510	Severe short stature	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent		141
HP:0003510	HP:0003510	Severe short stature	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0003510	HP:0003510	Severe short stature	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.		16
HP:0003510	HP:0003510	Severe short stature	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent		12
HP:0003510	HP:0003510	Severe short stature	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0003510	HP:0003510	Severe short stature	0	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome	HP:0040281 - Very frequent		11
HP:0003510	HP:0003510	Severe short stature	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0003510	HP:0003510	Severe short stature	0	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.		22
HP:0003510	HP:0003510	Severe short stature	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0003510	HP:0003510	Severe short stature	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0003510	HP:0003510	Severe short stature	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0003510	HP:0003510	Severe short stature	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.		55
HP:0003510	HP:0003510	Severe short stature	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0003510	HP:0003510	Severe short stature	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0003510	HP:0003510	Severe short stature	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0003510	HP:0003510	Severe short stature	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0003510	HP:0003510	Severe short stature	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0003510	HP:0003510	Severe short stature	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent		11
HP:0003510	HP:0003510	Severe short stature	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0003510	HP:0003510	Severe short stature	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0003510	HP:0003510	Severe short stature	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent		43
HP:0003510	HP:0003510	Severe short stature	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0003510	HP:0003510	Severe short stature	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0003510	HP:0003510	Severe short stature	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0003510	HP:0003510	Severe short stature	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0003510	HP:0003510	Severe short stature	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	HP:0003593 - Infantile onset	58
HP:0003510	HP:0003510	Severe short stature	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent		53
HP:0003510	HP:0003510	Severe short stature	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003510	HP:0003510	Severe short stature	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0003510	HP:0003510	Severe short stature	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0003510	HP:0003510	Severe short stature	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent		113
HP:0003510	HP:0003510	Severe short stature	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040281 - Very frequent		86
HP:0003510	HP:0003510	Severe short stature	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0003510	HP:0003510	Severe short stature	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0003510	HP:0003510	Severe short stature	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0003510	HP:0003510	Severe short stature	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0003510	HP:0003510	Severe short stature	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	HP:0040284 - Very rare
HP:0003510	HP:0003510	Severe short stature	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent		66
HP:0003510	HP:0003510	Severe short stature	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		67
HP:0003510	HP:0003510	Severe short stature	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent		166
HP:0003510	HP:0003510	Severe short stature	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0003510	HP:0003510	Severe short stature	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent		146
HP:0003510	HP:0003510	Severe short stature	0	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0003510	HP:0003510	Severe short stature	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040281 - Very frequent		19
HP:0003510	HP:0003510	Severe short stature	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5	.		19
HP:0003510	HP:0003510	Severe short stature	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0003510	HP:0003510	Severe short stature	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent		133
HP:0003510	HP:0003510	Severe short stature	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.		214
HP:0003510	HP:0003510	Severe short stature	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent		214
HP:0003510	HP:0003510	Severe short stature	0	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism	.		214
HP:0003510	HP:0003510	Severe short stature	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent		214
HP:0003510	HP:0003510	Severe short stature	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0003510	HP:0003510	Severe short stature	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0003510	HP:0003510	Severe short stature	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		14

Genes (101) :ADAMTS2 ADAMTSL2 ALDH18A1 AMER1 ANTXR2 ATP11A B3GALT6 BRF1 CANT1 CDC45 CDC6 CDT1 CENPT CKAP2L COL1A1 COL1A2 COL2A1 COMP COX7B CRIPT CSGALNACT1 CTSA DDRGK1 DHCR24 DLL3 DLX5 DNMT3A DVL1 DVL3 DYM EPRS1 ERCC4 ERCC6 ESCO2 FAM111A FBN1 FGFR1 FGFR3 FLNB FZD2 GH1 GHR GHRHR GLB1 GMNN GORAB HCCS HHAT HSPA9 HSPG2 IDS INPP5K INPPL1 KAT6B KIF11 LARP7 LTBP3 LYSET MAP3K7 MBTPS2 MESP2 NDUFB11 NEPRO NIN NSMCE2 OBSL1 ORC1 ORC4 ORC6 PCYT1A PEX7 PIEZO2 PIK3R1 PNPLA6 POLE PTCD3 PTDSS1 PTH1R PYCR1 RMRP RNU4ATAC RPL13 RTTN SALL4 SDHA SDHAF1 SDHB SDHD SGMS2 SHOX SIL1 SLC26A2 SMAD4 SMARCA2 STAT5B TBX6 TCTN3 TRIP11 TRPV4 WNT5A XYLT1

Diseases (94) :ORPHA:1901 OMIM:219150 ORPHA:2780 ORPHA:2176 OMIM:619851 OMIM:271640 ORPHA:444072 OMIM:251450 ORPHA:1425 ORPHA:2554 OMIM:618702 ORPHA:3255 ORPHA:1899 OMIM:184250 ORPHA:93316 OMIM:132400 ORPHA:2556 OMIM:615789 OMIM:256540 ORPHA:93352 ORPHA:35107 OMIM:277300 OMIM:220600 OMIM:618724 ORPHA:3107 ORPHA:239 OMIM:617951 OMIM:610965 OMIM:133540 OMIM:278800 ORPHA:2319 OMIM:127000 ORPHA:969 OMIM:102370 ORPHA:2645 OMIM:616482 OMIM:112310 OMIM:262400 OMIM:173100 OMIM:262500 ORPHA:633 OMIM:618157 OMIM:230500 OMIM:616835 ORPHA:2078 OMIM:231070 ORPHA:1422 OMIM:600092 OMIM:616854 ORPHA:1865 OMIM:309900 ORPHA:559 ORPHA:2746 ORPHA:3047 ORPHA:2526 OMIM:615071 OMIM:619345 ORPHA:3238 ORPHA:2273 OMIM:301014 OMIM:618853 OMIM:614851 OMIM:617253 OMIM:612921 ORPHA:85167 OMIM:215100 ORPHA:2461 ORPHA:3163 OMIM:275400 OMIM:618336 OMIM:619057 ORPHA:2658 OMIM:156400 OMIM:607095 ORPHA:2636 OMIM:618728 ORPHA:468631 ORPHA:2307 ORPHA:3208 OMIM:126550 ORPHA:2632 ORPHA:93298 ORPHA:2588 ORPHA:3051 OMIM:245590 ORPHA:1797 OMIM:122600 ORPHA:2753 ORPHA:93299 OMIM:156530 ORPHA:2635 OMIM:168400 ORPHA:93314 OMIM:615777

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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