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:
Aplasia/hypoplasia of the extremities (HP:0009815)

Parent Node:
Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)

Parent Node:
Limb undergrowth (HP:0009826)

..Starting node
..Upper limb undergrowth (HP:0009824)

Term ID:

9824

Name:

Upper limb undergrowth

Synonym:

Hypoplasia involving bones of the upper limbs; Short arms; Shortening of the arms; Upper limb undergrowth

Definition:

Arm shortening because of underdevelopment of one or more bones of the upper extremity.

Comments:

Reference:

HP:0009824

Genes and Diseases:

Child Nodes:

........

Forearm undergrowth (HP:0009821)

................... HP:0002984 Hypoplasia of the radius
................... HP:0003022 Hypoplasia of the ulna
................... HP:0005773 Short forearm

Sister Nodes:

Distal shortening of limbs (HP:0006402)

Hemiatrophy (HP:0100556)

Lower limb undergrowth (HP:0009816)

Meromelia (HP:0030728)

Mesomelia (HP:0003027)

Micromelia (HP:0002983)

Rhizomelia (HP:0008905)

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:0009824	HP:0009824	Upper limb undergrowth	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:0009824	HP:0009824	Upper limb undergrowth	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0009824	HP:0009824	Upper limb undergrowth	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0009824	HP:0009824	Upper limb undergrowth	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0009824	HP:0009824	Upper limb undergrowth	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0009824	HP:0009824	Upper limb undergrowth	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009824	HP:0009824	Upper limb undergrowth	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1		90
HP:0009824	HP:0009824	Upper limb undergrowth	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0009824	HP:0009824	Upper limb undergrowth	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0009824	HP:0009824	Upper limb undergrowth	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0009824	HP:0009824	Upper limb undergrowth	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0009824	HP:0009824	Upper limb undergrowth	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0009824	HP:0009824	Upper limb undergrowth	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0009824	HP:0009824	Upper limb undergrowth	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0009824	HP:0009824	Upper limb undergrowth	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0009824	HP:0009824	Upper limb undergrowth	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0009824	HP:0009824	Upper limb undergrowth	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome	.	3
HP:0009824	HP:0009824	Upper limb undergrowth	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040282 - Frequent	284
HP:0009824	HP:0009824	Upper limb undergrowth	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	284
HP:0009824	HP:0009824	Upper limb undergrowth	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009824	HP:0009824	Upper limb undergrowth	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome		284
HP:0009824	HP:0009824	Upper limb undergrowth	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0009824	HP:0009824	Upper limb undergrowth	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0009824	HP:0009824	Upper limb undergrowth	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0009824	HP:0009824	Upper limb undergrowth	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0009824	HP:0009824	Upper limb undergrowth	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities		9
HP:0009824	HP:0009824	Upper limb undergrowth	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0009824	HP:0009824	Upper limb undergrowth	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0009824	HP:0009824	Upper limb undergrowth	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0009824	HP:0009824	Upper limb undergrowth	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0009824	HP:0009824	Upper limb undergrowth	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0009824	HP:0009824	Upper limb undergrowth	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0009824	HP:0009824	Upper limb undergrowth	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0009824	HP:0009824	Upper limb undergrowth	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0009824	HP:0009824	Upper limb undergrowth	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas		96
HP:0009824	HP:0009824	Upper limb undergrowth	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas		102
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0009824	HP:0009824	Upper limb undergrowth	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0009824	HP:0009824	Upper limb undergrowth	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009824	HP:0009824	Upper limb undergrowth	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0009824	HP:0009824	Upper limb undergrowth	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009824	HP:0009824	Upper limb undergrowth	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0009824	HP:0009824	Upper limb undergrowth	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0009824	HP:0009824	Upper limb undergrowth	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009824	HP:0009824	Upper limb undergrowth	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	9
HP:0009824	HP:0009824	Upper limb undergrowth	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0009824	HP:0009824	Upper limb undergrowth	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1		52
HP:0009824	HP:0009824	Upper limb undergrowth	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0009824	HP:0009824	Upper limb undergrowth	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0009824	HP:0009824	Upper limb undergrowth	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0009824	HP:0009824	Upper limb undergrowth	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009824	HP:0009824	Upper limb undergrowth	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1		44
HP:0009824	HP:0009824	Upper limb undergrowth	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0009824	HP:0009824	Upper limb undergrowth	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0009824	HP:0009824	Upper limb undergrowth	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0009824	HP:0009824	Upper limb undergrowth	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0009824	HP:0009824	Upper limb undergrowth	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0009824	HP:0009824	Upper limb undergrowth	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0009824	HP:0009824	Upper limb undergrowth	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0009824	HP:0009824	Upper limb undergrowth	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0009824	HP:0009824	Upper limb undergrowth	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009824	HP:0009824	Upper limb undergrowth	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0009824	HP:0009824	Upper limb undergrowth	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0009824	HP:0009824	Upper limb undergrowth	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0009824	HP:0009824	Upper limb undergrowth	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis		113
HP:0009824	HP:0009824	Upper limb undergrowth	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0009824	HP:0009824	Upper limb undergrowth	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent	12
HP:0009824	HP:0009824	Upper limb undergrowth	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0009824	HP:0009824	Upper limb undergrowth	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis		134
HP:0009824	HP:0009824	Upper limb undergrowth	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0009824	HP:0009824	Upper limb undergrowth	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0009824	HP:0009824	Upper limb undergrowth	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0009824	HP:0009824	Upper limb undergrowth	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0009824	HP:0009824	Upper limb undergrowth	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0009824	HP:0009824	Upper limb undergrowth	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0009824	HP:0009824	Upper limb undergrowth	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009824	HP:0009824	Upper limb undergrowth	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0009824	HP:0009824	Upper limb undergrowth	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0009824	HP:0009824	Upper limb undergrowth	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0009824	HP:0009824	Upper limb undergrowth	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0009824	HP:0009824	Upper limb undergrowth	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0009824	HP:0009824	Upper limb undergrowth	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0009824	HP:0009824	Upper limb undergrowth	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0009824	HP:0009824	Upper limb undergrowth	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0009824	HP:0009824	Upper limb undergrowth	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0009824	HP:0009824	Upper limb undergrowth	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0009824	HP:0009824	Upper limb undergrowth	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009824	HP:0009824	Upper limb undergrowth	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0009824	HP:0009824	Upper limb undergrowth	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0009824	HP:0009824	Upper limb undergrowth	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0009824	HP:0009824	Upper limb undergrowth	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0009824	HP:0009824	Upper limb undergrowth	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0009824	HP:0009824	Upper limb undergrowth	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis		66
HP:0009824	HP:0009824	Upper limb undergrowth	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0009824	HP:0009824	Upper limb undergrowth	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature		66
HP:0009824	HP:0009824	Upper limb undergrowth	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0009824	HP:0009824	Upper limb undergrowth	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent	166
HP:0009824	HP:0009824	Upper limb undergrowth	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0009824	HP:0009824	Upper limb undergrowth	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P		274
HP:0009824	HP:0009824	Upper limb undergrowth	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0009824	HP:0009824	Upper limb undergrowth	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0009824	HP:0009824	Upper limb undergrowth	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0009824	HP:0009824	Upper limb undergrowth	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0009824	HP:0009824	Upper limb undergrowth	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009824	HP:0009824	Upper limb undergrowth	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0009824	HP:0009824	Upper limb undergrowth	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0009824	HP:0009824	Upper limb undergrowth	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0009824	HP:0009824	Upper limb undergrowth	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0009824	HP:0009824	Upper limb undergrowth	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009824	HP:0009821	Forearm undergrowth	1	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:0009824	HP:0009821	Forearm undergrowth	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0009824	HP:0009821	Forearm undergrowth	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0009824	HP:0009821	Forearm undergrowth	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0009824	HP:0009821	Forearm undergrowth	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0009824	HP:0009821	Forearm undergrowth	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0009824	HP:0009821	Forearm undergrowth	1	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1		90
HP:0009824	HP:0009821	Forearm undergrowth	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0009824	HP:0009821	Forearm undergrowth	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0009824	HP:0009821	Forearm undergrowth	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0009824	HP:0009821	Forearm undergrowth	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0009824	HP:0009821	Forearm undergrowth	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0009824	HP:0009821	Forearm undergrowth	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0009824	HP:0009821	Forearm undergrowth	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0009824	HP:0009821	Forearm undergrowth	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0009824	HP:0009821	Forearm undergrowth	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009824	HP:0009821	Forearm undergrowth	1	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome		284
HP:0009824	HP:0009821	Forearm undergrowth	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0009824	HP:0009821	Forearm undergrowth	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0009824	HP:0009821	Forearm undergrowth	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0009824	HP:0009821	Forearm undergrowth	1	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities		9
HP:0009824	HP:0009821	Forearm undergrowth	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0009824	HP:0009821	Forearm undergrowth	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0009824	HP:0009821	Forearm undergrowth	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0009824	HP:0009821	Forearm undergrowth	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0009824	HP:0009821	Forearm undergrowth	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0009824	HP:0009821	Forearm undergrowth	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0009824	HP:0009821	Forearm undergrowth	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0009824	HP:0009821	Forearm undergrowth	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0009824	HP:0009821	Forearm undergrowth	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0009824	HP:0009821	Forearm undergrowth	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0009824	HP:0009821	Forearm undergrowth	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009824	HP:0009821	Forearm undergrowth	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0009824	HP:0009821	Forearm undergrowth	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009824	HP:0009821	Forearm undergrowth	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0009824	HP:0009821	Forearm undergrowth	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0009824	HP:0009821	Forearm undergrowth	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009824	HP:0009821	Forearm undergrowth	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0009824	HP:0009821	Forearm undergrowth	1	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1		52
HP:0009824	HP:0009821	Forearm undergrowth	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0009824	HP:0009821	Forearm undergrowth	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0009824	HP:0009821	Forearm undergrowth	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009824	HP:0009821	Forearm undergrowth	1	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1		44
HP:0009824	HP:0009821	Forearm undergrowth	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0009824	HP:0009821	Forearm undergrowth	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0009824	HP:0009821	Forearm undergrowth	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0009824	HP:0009821	Forearm undergrowth	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0009824	HP:0009821	Forearm undergrowth	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0009824	HP:0009821	Forearm undergrowth	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0009824	HP:0009821	Forearm undergrowth	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009824	HP:0009821	Forearm undergrowth	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0009824	HP:0009821	Forearm undergrowth	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0009824	HP:0009821	Forearm undergrowth	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0009824	HP:0009821	Forearm undergrowth	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis		113
HP:0009824	HP:0009821	Forearm undergrowth	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0009824	HP:0009821	Forearm undergrowth	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis		134
HP:0009824	HP:0009821	Forearm undergrowth	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0009824	HP:0009821	Forearm undergrowth	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0009824	HP:0009821	Forearm undergrowth	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0009824	HP:0009821	Forearm undergrowth	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0009824	HP:0009821	Forearm undergrowth	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0009824	HP:0009821	Forearm undergrowth	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009824	HP:0009821	Forearm undergrowth	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0009824	HP:0009821	Forearm undergrowth	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0009824	HP:0009821	Forearm undergrowth	1	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0009824	HP:0009821	Forearm undergrowth	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0009824	HP:0009821	Forearm undergrowth	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0009824	HP:0009821	Forearm undergrowth	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0009824	HP:0009821	Forearm undergrowth	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0009824	HP:0009821	Forearm undergrowth	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0009824	HP:0009821	Forearm undergrowth	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0009824	HP:0009821	Forearm undergrowth	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0009824	HP:0009821	Forearm undergrowth	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009824	HP:0009821	Forearm undergrowth	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0009824	HP:0009821	Forearm undergrowth	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0009824	HP:0009821	Forearm undergrowth	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0009824	HP:0009821	Forearm undergrowth	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0009824	HP:0009821	Forearm undergrowth	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis		66
HP:0009824	HP:0009821	Forearm undergrowth	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0009824	HP:0009821	Forearm undergrowth	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent	66
HP:0009824	HP:0009821	Forearm undergrowth	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0009824	HP:0009821	Forearm undergrowth	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P		274
HP:0009824	HP:0009821	Forearm undergrowth	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0009824	HP:0009821	Forearm undergrowth	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0009824	HP:0009821	Forearm undergrowth	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0009824	HP:0009821	Forearm undergrowth	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0009824	HP:0009821	Forearm undergrowth	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009824	HP:0009821	Forearm undergrowth	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0009824	HP:0009821	Forearm undergrowth	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0009824	HP:0009821	Forearm undergrowth	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0009824	HP:0009821	Forearm undergrowth	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0009824	HP:0009821	Forearm undergrowth	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009824	HP:0002984	Hypoplasia of the radius	2	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:0009824	HP:0002984	Hypoplasia of the radius	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	3179
HP:0009824	HP:0002984	Hypoplasia of the radius	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	3179
HP:0009824	HP:0002984	Hypoplasia of the radius	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	.	8
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	90
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0009824	HP:0002984	Hypoplasia of the radius	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	HP:0040283 - Occasional	515
HP:0009824	HP:0002984	Hypoplasia of the radius	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040282 - Frequent	284
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0009824	HP:0002984	Hypoplasia of the radius	2	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0009824	HP:0002984	Hypoplasia of the radius	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0009824	HP:0002984	Hypoplasia of the radius	2	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.	9
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0009824	HP:0002984	Hypoplasia of the radius	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0009824	HP:0002984	Hypoplasia of the radius	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent	92
HP:0009824	HP:0002984	Hypoplasia of the radius	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0009824	HP:0002984	Hypoplasia of the radius	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040282 - Frequent	58
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0009824	HP:0002984	Hypoplasia of the radius	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0009824	HP:0002984	Hypoplasia of the radius	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0009824	HP:0002984	Hypoplasia of the radius	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0009824	HP:0002984	Hypoplasia of the radius	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009824	HP:0002984	Hypoplasia of the radius	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0009824	HP:0002984	Hypoplasia of the radius	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0009824	HP:0002984	Hypoplasia of the radius	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0009824	HP:0002984	Hypoplasia of the radius	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0009824	HP:0002984	Hypoplasia of the radius	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	52
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0009824	HP:0002984	Hypoplasia of the radius	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0009824	HP:0002984	Hypoplasia of the radius	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0009824	HP:0002984	Hypoplasia of the radius	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	44
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome	.	124
HP:0009824	HP:0002984	Hypoplasia of the radius	2	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome	.	124
HP:0009824	HP:0002984	Hypoplasia of the radius	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	124
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	124
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0009824	HP:0002984	Hypoplasia of the radius	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0009824	HP:0002984	Hypoplasia of the radius	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009824	HP:0002984	Hypoplasia of the radius	2	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0009824	HP:0002984	Hypoplasia of the radius	2	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	113
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	113
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	134
HP:0009824	HP:0002984	Hypoplasia of the radius	2	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	134
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0009824	HP:0002984	Hypoplasia of the radius	2	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.	391
HP:0009824	HP:0002984	Hypoplasia of the radius	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0009824	HP:0002984	Hypoplasia of the radius	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009824	HP:0002984	Hypoplasia of the radius	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009824	HP:0005773	Short forearm	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009824	HP:0002984	Hypoplasia of the radius	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0009824	HP:0002984	Hypoplasia of the radius	2	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0009824	HP:0002984	Hypoplasia of the radius	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0009824	HP:0002984	Hypoplasia of the radius	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0009824	HP:0002984	Hypoplasia of the radius	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0009824	HP:0002984	Hypoplasia of the radius	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0009824	HP:0002984	Hypoplasia of the radius	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009824	HP:0002984	Hypoplasia of the radius	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0009824	HP:0002984	Hypoplasia of the radius	2	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040281 - Very frequent	86
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0009824	HP:0002984	Hypoplasia of the radius	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0009824	HP:0002984	Hypoplasia of the radius	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0009824	HP:0002984	Hypoplasia of the radius	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0009824	HP:0002984	Hypoplasia of the radius	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0009824	HP:0002984	Hypoplasia of the radius	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0009824	HP:0002984	Hypoplasia of the radius	2	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0009824	HP:0002984	Hypoplasia of the radius	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0009824	HP:0002984	Hypoplasia of the radius	2	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0009824	HP:0002984	Hypoplasia of the radius	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009824	HP:0002984	Hypoplasia of the radius	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0009824	HP:0002984	Hypoplasia of the radius	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040282 - Frequent	13
HP:0009824	HP:0002984	Hypoplasia of the radius	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0009824	HP:0003022	Hypoplasia of the ulna	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0009824	HP:0002984	Hypoplasia of the radius	2	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009824	HP:0005036	Unilateral ulnar hypoplasia	3	CL E G H
HP:0009824	HP:0006434	Hypoplasia of proximal radius	3	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:0009824	HP:0006434	Hypoplasia of proximal radius	3	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0009824	HP:0006434	Hypoplasia of proximal radius	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0009824	HP:0005648	Bilateral ulnar hypoplasia	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0009824	HP:0005033	Distal ulnar hypoplasia	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11

Genes (85) :AFF4 ALG12 APC ATR B2M BMPR1B BPTF BRCA1 BRCA2 BRIP1 CCDC8 CCNQ CHD7 CHN1 CHST3 CHUK COL2A1 CUL7 DHODH DLK1 DONSON DPM1 DYNC2H1 EIF4A3 ERCC4 ESCO2 EXOC6B EXT1 EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR2 FGFR3 FN1 GDF5 HYLS1 IFT81 IHH JAG1 LBR LRP4 MAD2L2 MAFB MEG3 NIPBL NOG NPR2 OBSL1 PALB2 PDE4D PIGT PRKAR1A PSMD12 RAD51 RAD51C RBM10 RBM8A RECQL4 RFWD3 ROR2 RPL26 RPS19 RTL1 SALL4 SCARF2 SF3B4 SHOX SLC26A2 SLX4 TBX3 TBX5 TRIP11 UBE2T VPS35L WNT7A XRCC2

Diseases (82) :ORPHA:444077 OMIM:607143 ORPHA:3258 OMIM:210600 OMIM:241600 OMIM:609441 ORPHA:93388 ORPHA:529962 ORPHA:84 ORPHA:2616 ORPHA:140952 OMIM:214800 ORPHA:233 OMIM:143095 OMIM:613630 ORPHA:94068 ORPHA:93315 OMIM:271700 ORPHA:1856 ORPHA:246 OMIM:263750 ORPHA:96334 OMIM:617604 OMIM:251230 OMIM:608799 OMIM:613091 OMIM:268305 ORPHA:2319 ORPHA:3103 OMIM:618395 ORPHA:321 ORPHA:3412 OMIM:603467 OMIM:609053 OMIM:149730 ORPHA:2363 OMIM:201250 OMIM:200700 OMIM:236680 OMIM:617895 OMIM:607778 OMIM:118450 OMIM:169400 OMIM:212780 OMIM:122470 OMIM:186500 OMIM:602875 ORPHA:950 ORPHA:439822 ORPHA:369837 OMIM:615398 OMIM:613390 ORPHA:2886 OMIM:311900 OMIM:274000 OMIM:218600 OMIM:617784 OMIM:268310 OMIM:614900 OMIM:105650 ORPHA:959 OMIM:607323 OMIM:147750 ORPHA:2307 OMIM:600920 OMIM:154400 ORPHA:245 OMIM:249700 ORPHA:240 OMIM:127300 ORPHA:314795 ORPHA:56304 ORPHA:93307 OMIM:613951 OMIM:181450 OMIM:142900 OMIM:200600 OMIM:619135 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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