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:
Abnormal long bone morphology (HP:0011314)

Grandparent Node:
Abnormal morphology of the radius (HP:0002818)

Grandparent Node:
Obsolete Abnormal forearm bone morphology (HP:0040073)

Parent Node:
obsolete Abnormal morphology of the radius (HP:0045009)

..Starting node
..Abnormal shape of the radius (HP:0045008)

Term ID:

45008

Name:

Abnormal shape of the radius

Synonym:

Definition:

Comments:

Reference:

HP:0045008

Genes and Diseases:

Child Nodes:

........

Radial bowing (HP:0002986)

........

Slender radius (HP:0040062)

Sister Nodes:

Broad radius (HP:0003981)

Constricted radius (HP:0003976)

Deformed radius (HP:0003977)

Elongated radius (HP:0006424)

Fractured radius (HP:0003978)

Hypoplasia of the radius (HP:0002984)

Radial dysplasia (HP:0006433)

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:0045008	HP:0045008	Abnormal shape of the radius	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0045008	HP:0045008	Abnormal shape of the radius	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0045008	HP:0045008	Abnormal shape of the radius	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0045008	HP:0045008	Abnormal shape of the radius	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0045008	HP:0045008	Abnormal shape of the radius	0	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2		51
HP:0045008	HP:0045008	Abnormal shape of the radius	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0045008	HP:0045008	Abnormal shape of the radius	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0045008	HP:0045008	Abnormal shape of the radius	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0045008	HP:0045008	Abnormal shape of the radius	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III		233
HP:0045008	HP:0045008	Abnormal shape of the radius	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0045008	HP:0045008	Abnormal shape of the radius	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0045008	HP:0045008	Abnormal shape of the radius	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0045008	HP:0045008	Abnormal shape of the radius	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0045008	HP:0045008	Abnormal shape of the radius	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0045008	HP:0045008	Abnormal shape of the radius	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type		52
HP:0045008	HP:0045008	Abnormal shape of the radius	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0045008	HP:0045008	Abnormal shape of the radius	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0045008	HP:0045008	Abnormal shape of the radius	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0045008	HP:0045008	Abnormal shape of the radius	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0045008	HP:0045008	Abnormal shape of the radius	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0045008	HP:0045008	Abnormal shape of the radius	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0045008	HP:0045008	Abnormal shape of the radius	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis		66
HP:0045008	HP:0045008	Abnormal shape of the radius	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0045008	HP:0045008	Abnormal shape of the radius	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0045008	HP:0045008	Abnormal shape of the radius	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome		166
HP:0045008	HP:0045008	Abnormal shape of the radius	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0045008	HP:0045008	Abnormal shape of the radius	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0045008	HP:0045008	Abnormal shape of the radius	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0045008	HP:0045008	Abnormal shape of the radius	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0045008	HP:0040062	Slender radius	1	CL E G H
HP:0045008	HP:0002986	Radial bowing	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	.	8
HP:0045008	HP:0002986	Radial bowing	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0045008	HP:0002986	Radial bowing	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0045008	HP:0002986	Radial bowing	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0045008	HP:0002986	Radial bowing	1	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2		51
HP:0045008	HP:0002986	Radial bowing	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0045008	HP:0002986	Radial bowing	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0045008	HP:0002986	Radial bowing	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0045008	HP:0002986	Radial bowing	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0045008	HP:0002986	Radial bowing	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0045008	HP:0002986	Radial bowing	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0045008	HP:0002986	Radial bowing	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0045008	HP:0002986	Radial bowing	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0045008	HP:0002986	Radial bowing	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0045008	HP:0002986	Radial bowing	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0045008	HP:0002986	Radial bowing	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0045008	HP:0002986	Radial bowing	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0045008	HP:0002986	Radial bowing	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0045008	HP:0002986	Radial bowing	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0045008	HP:0002986	Radial bowing	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0045008	HP:0002986	Radial bowing	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0045008	HP:0002986	Radial bowing	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0045008	HP:0002986	Radial bowing	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0045008	HP:0002986	Radial bowing	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0045008	HP:0002986	Radial bowing	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0045008	HP:0002986	Radial bowing	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0045008	HP:0002986	Radial bowing	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0045008	HP:0002986	Radial bowing	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040282 - Frequent	13
HP:0045008	HP:0002986	Radial bowing	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13

Genes (24) :B2M B3GALT6 COL11A1 COL2A1 FGF23 FGFR3 FLNA FLNB GDF5 GLI3 HOXA11 IFT43 LBR MMP13 NPR2 P3H1 PCNT PRKG2 ROR2 SHOX SLC26A2 TMEM67 TRPV4 WNT7A

Diseases (29) :OMIM:241600 OMIM:271640 OMIM:154780 OMIM:151210 OMIM:617993 OMIM:100800 OMIM:304120 OMIM:108720 OMIM:108721 OMIM:201250 ORPHA:672 OMIM:605432 OMIM:617866 OMIM:618019 OMIM:602111 OMIM:602875 OMIM:610915 OMIM:210720 OMIM:619636 OMIM:268310 OMIM:249700 ORPHA:240 OMIM:127300 ORPHA:93307 OMIM:602152 ORPHA:93314 OMIM:228930 ORPHA:2879 OMIM:276820

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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