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:
Aplasia/hypoplasia involving forearm bones (HP:0006503)

Grandparent Node:
obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)

Grandparent Node:
Short long bone (HP:0003026)

Grandparent Node:
Upper limb undergrowth (HP:0009824)

Parent Node:
Abnormal morphology of ulna (HP:0040071)

Parent Node:
Aplasia/Hypoplasia of the ulna (HP:0006495)

Parent Node:
Forearm undergrowth (HP:0009821)

..Starting node
..Hypoplasia of the ulna (HP:0003022)

Term ID:

3022

Name:

Hypoplasia of the ulna

Synonym:

Hypoplastic ulna; Short ulna; Short ulnae; Ulnar hypoplasia; Underdeveloped inner large forearm bone; Underdeveloped ulna

Definition:

Underdevelopment of the ulna.

Comments:

Reference:

HP:0003022

Genes and Diseases:

Child Nodes:

........

Distal ulnar hypoplasia (HP:0005033)

........

Unilateral ulnar hypoplasia (HP:0005036)

........

Bilateral ulnar hypoplasia (HP:0005648)

Sister Nodes:

Hypoplasia of the radius (HP:0002984)

Short forearm (HP:0005773)

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:0003022	HP:0003022	Hypoplasia of the ulna	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	3179
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	.	8
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	90
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	HP:0040283 - Occasional	515
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040282 - Frequent	284
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	52
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	44
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome	.	124
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	124
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	113
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	134
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003022	HP:0003022	Hypoplasia of the ulna	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0003022	HP:0005036	Unilateral ulnar hypoplasia	1	CL E G H
HP:0003022	HP:0005648	Bilateral ulnar hypoplasia	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003022	HP:0005033	Distal ulnar hypoplasia	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11

Genes (55) :APC B2M BMPR1B BRCA1 BRCA2 BRIP1 CCDC8 CHD7 CHST3 COL2A1 CUL7 DHODH DYNC2H1 ERCC4 EXOC6B FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR2 FGFR3 GDF5 IHH JAG1 LRP4 MAD2L2 NOG OBSL1 PALB2 PDE4D PIGT PRKAR1A RAD51 RAD51C RBM8A RECQL4 RFWD3 ROR2 RPL26 SALL4 SCARF2 SHOX SLX4 TBX3 TBX5 UBE2T VPS35L XRCC2

Diseases (37) :ORPHA:3258 OMIM:241600 OMIM:609441 ORPHA:93388 ORPHA:84 ORPHA:2616 OMIM:214800 OMIM:143095 OMIM:271700 ORPHA:1856 ORPHA:246 OMIM:263750 OMIM:613091 OMIM:618395 OMIM:149730 OMIM:201250 OMIM:200700 OMIM:607778 OMIM:118450 OMIM:212780 OMIM:186500 ORPHA:950 OMIM:615398 OMIM:274000 OMIM:218600 OMIM:268310 OMIM:614900 ORPHA:959 OMIM:607323 OMIM:147750 OMIM:600920 OMIM:249700 ORPHA:240 OMIM:127300 OMIM:181450 OMIM:142900 OMIM:619135

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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