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 rib morphology (HP:0000772)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)

Parent Node:
Aplasia/Hypoplasia of the ribs (HP:0006712)

..Starting node
..Missing ribs (HP:0000921)

Term ID:

921

Name:

Missing ribs

Synonym:

Absent ribs; Decreased rib number; Missing ribs

Definition:

A developmental anomaly with absence of one or more ribs.

Comments:

Reference:

HP:0000921

Genes and Diseases:

Child Nodes:

........

11 pairs of ribs (HP:0000878)

........

10 pairs of ribs (HP:0030300)

Sister Nodes:

Short ribs (HP:0000773)

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:0000921	HP:0000921	Missing ribs	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000921	HP:0000921	Missing ribs	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0000921	HP:0000921	Missing ribs	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0000921	HP:0000921	Missing ribs	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0000921	HP:0000921	Missing ribs	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0000921	HP:0000921	Missing ribs	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0000921	HP:0000921	Missing ribs	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0000921	HP:0000921	Missing ribs	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent	78
HP:0000921	HP:0000921	Missing ribs	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0000921	HP:0000921	Missing ribs	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000921	HP:0000921	Missing ribs	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0000921	HP:0000921	Missing ribs	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4		161
HP:0000921	HP:0000921	Missing ribs	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5		146
HP:0000921	HP:0000921	Missing ribs	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0000921	HP:0000921	Missing ribs	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000921	HP:0000921	Missing ribs	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS		44
HP:0000921	HP:0000921	Missing ribs	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0000921	HP:0000921	Missing ribs	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0000921	HP:0000921	Missing ribs	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0000921	HP:0000921	Missing ribs	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional	3
HP:0000921	HP:0000921	Missing ribs	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000921	HP:0000921	Missing ribs	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0000921	HP:0000921	Missing ribs	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia		2
HP:0000921	HP:0000921	Missing ribs	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0000921	HP:0000921	Missing ribs	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000921	HP:0000921	Missing ribs	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000921	HP:0000921	Missing ribs	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0000921	HP:0000921	Missing ribs	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000921	HP:0000921	Missing ribs	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0000921	HP:0000921	Missing ribs	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000921	HP:0000921	Missing ribs	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000921	HP:0000921	Missing ribs	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000921	HP:0000921	Missing ribs	0	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.
HP:0000921	HP:0000921	Missing ribs	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0000921	HP:0000921	Missing ribs	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0000921	HP:0000921	Missing ribs	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000921	HP:0000921	Missing ribs	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000921	HP:0000921	Missing ribs	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000921	HP:0000921	Missing ribs	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000921	HP:0000921	Missing ribs	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000921	HP:0000921	Missing ribs	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000921	HP:0000921	Missing ribs	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000921	HP:0000921	Missing ribs	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0000921	HP:0000921	Missing ribs	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000921	HP:0000921	Missing ribs	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0000921	HP:0000921	Missing ribs	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0000921	HP:0000921	Missing ribs	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0000921	HP:0000921	Missing ribs	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0000921	HP:0000921	Missing ribs	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0000921	HP:0000921	Missing ribs	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000921	HP:0000921	Missing ribs	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0000921	HP:0000921	Missing ribs	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0000921	HP:0000921	Missing ribs	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome		33
HP:0000921	HP:0000921	Missing ribs	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0000921	HP:0000921	Missing ribs	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000921	HP:0000921	Missing ribs	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0000921	HP:0000921	Missing ribs	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000921	HP:0000921	Missing ribs	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000921	HP:0000921	Missing ribs	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000921	HP:0000921	Missing ribs	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0000921	HP:0000921	Missing ribs	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0000921	HP:0000921	Missing ribs	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040283 - Occasional	19
HP:0000921	HP:0000921	Missing ribs	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5	.	19
HP:0000921	HP:0000921	Missing ribs	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000921	HP:0000921	Missing ribs	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000921	HP:0000921	Missing ribs	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional	111
HP:0000921	HP:0000921	Missing ribs	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0000921	HP:0000921	Missing ribs	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0000921	HP:0000921	Missing ribs	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12
HP:0000921	HP:0030300	10 pairs of ribs	1	CL E G H
HP:0000921	HP:0000878	11 pairs of ribs	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000921	HP:0000878	11 pairs of ribs	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0000921	HP:0000878	11 pairs of ribs	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000921	HP:0000878	11 pairs of ribs	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0000921	HP:0000878	11 pairs of ribs	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	5
HP:0000921	HP:0000878	11 pairs of ribs	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0000921	HP:0000878	11 pairs of ribs	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000921	HP:0000878	11 pairs of ribs	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0000921	HP:0000878	11 pairs of ribs	1	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.	161
HP:0000921	HP:0000878	11 pairs of ribs	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	HP:0040283 - Occasional	146
HP:0000921	HP:0000878	11 pairs of ribs	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	165
HP:0000921	HP:0000878	11 pairs of ribs	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000921	HP:0000878	11 pairs of ribs	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS		44
HP:0000921	HP:0000878	11 pairs of ribs	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0000921	HP:0000878	11 pairs of ribs	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0000921	HP:0000878	11 pairs of ribs	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0000921	HP:0000878	11 pairs of ribs	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	HP:0040283 - Occasional	2
HP:0000921	HP:0000878	11 pairs of ribs	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000921	HP:0000878	11 pairs of ribs	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0000921	HP:0000878	11 pairs of ribs	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0000921	HP:0000878	11 pairs of ribs	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0000921	HP:0000878	11 pairs of ribs	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000921	HP:0000878	11 pairs of ribs	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000921	HP:0000878	11 pairs of ribs	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000921	HP:0000878	11 pairs of ribs	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0000921	HP:0000878	11 pairs of ribs	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	HP:0040284 - Very rare
HP:0000921	HP:0000878	11 pairs of ribs	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000921	HP:0000878	11 pairs of ribs	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0000921	HP:0000878	11 pairs of ribs	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000921	HP:0000878	11 pairs of ribs	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000921	HP:0000878	11 pairs of ribs	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0000921	HP:0000878	11 pairs of ribs	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000921	HP:0000878	11 pairs of ribs	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0000921	HP:0000878	11 pairs of ribs	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0000921	HP:0000878	11 pairs of ribs	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0000921	HP:0000878	11 pairs of ribs	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0000921	HP:0000878	11 pairs of ribs	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0000921	HP:0000878	11 pairs of ribs	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional	33
HP:0000921	HP:0000878	11 pairs of ribs	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0000921	HP:0000878	11 pairs of ribs	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0000921	HP:0000878	11 pairs of ribs	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0000921	HP:0000878	11 pairs of ribs	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000921	HP:0000878	11 pairs of ribs	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000921	HP:0000878	11 pairs of ribs	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0000921	HP:0000878	11 pairs of ribs	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0000921	HP:0000878	11 pairs of ribs	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000921	HP:0000878	11 pairs of ribs	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional

Genes (62) :ALDH1A2 ATP6V1B2 ATR B3GALT6 B3GAT3 B4GAT1 BMP2 BMPER CASZ1 CCDC22 CENPJ CEP152 CHST3 CPLANE1 DNMT3A FBN1 FLI1 FLNB FUZ GABRD GPX4 HDAC6 HES7 HNRNPR HSPG2 IFT43 KCNAB2 KYNU LBR LUZP1 MMP23B MYF5 NALCN NFASC PAICS PDPN PRDM16 PRIM1 PRKCZ PTPN11 RERE RNU4ATAC ROR2 RPS19 RRAS2 RSPO2 SCUBE3 SIX6 SKI SNRPB SOX2 SOX9 SPEN SRCAP TBC1D24 TBCK TBX6 TOR1A UBE4B VANGL1 WASHC5 WNT3

Diseases (50) :OMIM:620025 ORPHA:79500 OMIM:210600 OMIM:271640 OMIM:245600 OMIM:615287 OMIM:617877 ORPHA:66637 OMIM:608022 ORPHA:1606 ORPHA:7 OMIM:613676 OMIM:613823 OMIM:277170 OMIM:618724 ORPHA:2462 ORPHA:2308 OMIM:108720 ORPHA:3027 OMIM:250220 OMIM:300863 OMIM:613686 OMIM:620073 OMIM:617866 OMIM:617661 OMIM:215140 OMIM:618155 OMIM:616266 OMIM:618356 OMIM:619859 OMIM:620005 OMIM:151100 OMIM:210710 OMIM:268310 OMIM:105650 OMIM:618624 ORPHA:3301 OMIM:619184 OMIM:206900 OMIM:117650 ORPHA:77298 OMIM:114290 ORPHA:140 ORPHA:2044 OMIM:136140 ORPHA:488632 ORPHA:1797 OMIM:122600 OMIM:618947 OMIM:220210

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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