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:
Aplasia/Hypoplasia of the radius (HP:0006501)

Parent Node:
Forearm undergrowth (HP:0009821)

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

..Starting node
..Hypoplasia of the radius (HP:0002984)

Term ID:

2984

Name:

Hypoplasia of the radius

Synonym:

Hypoplastic radii; Hypoplastic radius; Radial hypoplasia; Radial ray hypoplasia; Short radii; Short radius; Shortening of radius; Underdeveloped outer large forearm bone

Definition:

Underdevelopment of the radius.

Comments:

Reference:

HP:0002984

Genes and Diseases:

Child Nodes:

........

Hypoplasia of proximal radius (HP:0006434)

Sister Nodes:

Abnormal shape of the radius (HP:0045008)

Broad radius (HP:0003981)

Constricted radius (HP:0003976)

Deformed radius (HP:0003977)

Elongated radius (HP:0006424)

Fractured radius (HP:0003978)

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:0002984	HP:0002984	Hypoplasia of the radius	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0002984	HP:0002984	Hypoplasia of the radius	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0002984	HP:0002984	Hypoplasia of the radius	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	3179
HP:0002984	HP:0002984	Hypoplasia of the radius	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0002984	HP:0002984	Hypoplasia of the radius	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0002984	HP:0002984	Hypoplasia of the radius	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0002984	HP:0002984	Hypoplasia of the radius	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0002984	HP:0002984	Hypoplasia of the radius	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0002984	HP:0002984	Hypoplasia of the radius	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.	9
HP:0002984	HP:0002984	Hypoplasia of the radius	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0002984	HP:0002984	Hypoplasia of the radius	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent	92
HP:0002984	HP:0002984	Hypoplasia of the radius	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0002984	HP:0002984	Hypoplasia of the radius	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040282 - Frequent	58
HP:0002984	HP:0002984	Hypoplasia of the radius	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0002984	HP:0002984	Hypoplasia of the radius	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0002984	HP:0002984	Hypoplasia of the radius	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0002984	HP:0002984	Hypoplasia of the radius	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0002984	HP:0002984	Hypoplasia of the radius	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0002984	HP:0002984	Hypoplasia of the radius	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0002984	HP:0002984	Hypoplasia of the radius	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0002984	HP:0002984	Hypoplasia of the radius	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0002984	HP:0002984	Hypoplasia of the radius	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0002984	HP:0002984	Hypoplasia of the radius	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0002984	HP:0002984	Hypoplasia of the radius	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0002984	HP:0002984	Hypoplasia of the radius	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0002984	HP:0002984	Hypoplasia of the radius	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome	.	124
HP:0002984	HP:0002984	Hypoplasia of the radius	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	124
HP:0002984	HP:0002984	Hypoplasia of the radius	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0002984	HP:0002984	Hypoplasia of the radius	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0002984	HP:0002984	Hypoplasia of the radius	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0002984	HP:0002984	Hypoplasia of the radius	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	113
HP:0002984	HP:0002984	Hypoplasia of the radius	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	134
HP:0002984	HP:0002984	Hypoplasia of the radius	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.	391
HP:0002984	HP:0002984	Hypoplasia of the radius	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0002984	HP:0002984	Hypoplasia of the radius	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0002984	HP:0002984	Hypoplasia of the radius	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002984	HP:0002984	Hypoplasia of the radius	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0002984	HP:0002984	Hypoplasia of the radius	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002984	HP:0002984	Hypoplasia of the radius	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0002984	HP:0002984	Hypoplasia of the radius	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0002984	HP:0002984	Hypoplasia of the radius	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0002984	HP:0002984	Hypoplasia of the radius	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0002984	HP:0002984	Hypoplasia of the radius	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0002984	HP:0002984	Hypoplasia of the radius	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0002984	HP:0002984	Hypoplasia of the radius	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040281 - Very frequent	86
HP:0002984	HP:0002984	Hypoplasia of the radius	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0002984	HP:0002984	Hypoplasia of the radius	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0002984	HP:0002984	Hypoplasia of the radius	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0002984	HP:0002984	Hypoplasia of the radius	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0002984	HP:0002984	Hypoplasia of the radius	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0002984	HP:0002984	Hypoplasia of the radius	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0002984	HP:0002984	Hypoplasia of the radius	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0002984	HP:0002984	Hypoplasia of the radius	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0002984	HP:0002984	Hypoplasia of the radius	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0002984	HP:0002984	Hypoplasia 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:0002984	HP:0002984	Hypoplasia of the radius	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040282 - Frequent	13
HP:0002984	HP:0002984	Hypoplasia of the radius	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0002984	HP:0002984	Hypoplasia of the radius	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0002984	HP:0006434	Hypoplasia of proximal radius	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0002984	HP:0006434	Hypoplasia of proximal radius	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0002984	HP:0006434	Hypoplasia of proximal radius	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16

Genes (42) :AFF4 ALG12 APC ATR CCNQ CHN1 DHODH DONSON EIF4A3 ESCO2 FANCB FANCF FANCI FGF10 FGFR2 FGFR3 GDF5 IFT81 IHH LRP4 MAFB NIPBL NPR2 PDE4D PRKAR1A RAD51C RBM10 RBM8A RECQL4 RFWD3 ROR2 RPL26 RPS19 SALL4 SF3B4 SHOX SLX4 TBX3 TBX5 TRIP11 WNT7A XRCC2

Diseases (50) :ORPHA:444077 OMIM:607143 ORPHA:3258 OMIM:210600 ORPHA:140952 ORPHA:233 OMIM:263750 ORPHA:246 OMIM:617604 OMIM:268305 ORPHA:2319 ORPHA:3103 ORPHA:3412 OMIM:603467 OMIM:609053 ORPHA:2363 OMIM:149730 OMIM:201250 OMIM:200700 OMIM:617895 OMIM:607778 OMIM:212780 OMIM:122470 OMIM:602875 ORPHA:950 OMIM:613390 ORPHA:2886 OMIM:311900 OMIM:274000 OMIM:218600 OMIM:617784 OMIM:268310 OMIM:614900 OMIM:105650 OMIM:607323 OMIM:147750 ORPHA:2307 OMIM:154400 ORPHA:245 OMIM:249700 ORPHA:240 OMIM:127300 OMIM:613951 OMIM:181450 OMIM:142900 OMIM:200600 OMIM:228930 ORPHA:2879 OMIM:276820 OMIM:617247

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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