Human Phenotype Ontology

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:0001454	HP:0001454	Abnormality of the upper arm	0	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3		117
HP:0001454	HP:0001454	Abnormality of the upper arm	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0001454	HP:0001454	Abnormality of the upper arm	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0001454	HP:0001454	Abnormality of the upper arm	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0001454	HP:0001454	Abnormality of the upper arm	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0001454	HP:0001454	Abnormality of the upper arm	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0001454	HP:0001454	Abnormality of the upper arm	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0001454	HP:0001454	Abnormality of the upper arm	0	CYP26B1 CL E G H	56603	20581	OMIM:614416	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA		4
HP:0001454	HP:0001454	Abnormality of the upper arm	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0001454	HP:0001454	Abnormality of the upper arm	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0001454	HP:0001454	Abnormality of the upper arm	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0001454	HP:0001454	Abnormality of the upper arm	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0001454	HP:0001454	Abnormality of the upper arm	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0001454	HP:0001454	Abnormality of the upper arm	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0001454	HP:0001454	Abnormality of the upper arm	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0001454	HP:0001454	Abnormality of the upper arm	0	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2		52
HP:0001454	HP:0001454	Abnormality of the upper arm	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0001454	HP:0001454	Abnormality of the upper arm	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2		58
HP:0001454	HP:0001454	Abnormality of the upper arm	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001454	HP:0001454	Abnormality of the upper arm	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia		99
HP:0001454	HP:0001454	Abnormality of the upper arm	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0001454	HP:0001454	Abnormality of the upper arm	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0001454	HP:0001454	Abnormality of the upper arm	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0001454	HP:0001454	Abnormality of the upper arm	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0001454	HP:0001454	Abnormality of the upper arm	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0001454	HP:0001454	Abnormality of the upper arm	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0001454	HP:0001454	Abnormality of the upper arm	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0001454	HP:0001454	Abnormality of the upper arm	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001454	HP:0001454	Abnormality of the upper arm	0	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia		106
HP:0001454	HP:0001454	Abnormality of the upper arm	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0001454	HP:0001454	Abnormality of the upper arm	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0001454	HP:0001454	Abnormality of the upper arm	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0001454	HP:0001454	Abnormality of the upper arm	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001454	HP:0001454	Abnormality of the upper arm	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0001454	HP:0001454	Abnormality of the upper arm	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0001454	HP:0001454	Abnormality of the upper arm	0	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome
HP:0001454	HP:0001454	Abnormality of the upper arm	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0001454	HP:0001454	Abnormality of the upper arm	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0001454	HP:0001454	Abnormality of the upper arm	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001454	HP:0001454	Abnormality of the upper arm	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001454	HP:0001454	Abnormality of the upper arm	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0001454	HP:0001454	Abnormality of the upper arm	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0001454	HP:0001454	Abnormality of the upper arm	0	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome		8
HP:0001454	HP:0001454	Abnormality of the upper arm	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0001454	HP:0001454	Abnormality of the upper arm	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0001454	HP:0001454	Abnormality of the upper arm	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0001454	HP:0001454	Abnormality of the upper arm	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0001454	HP:0001454	Abnormality of the upper arm	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0001454	HP:0001454	Abnormality of the upper arm	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001454	HP:0001454	Abnormality of the upper arm	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0001454	HP:0001454	Abnormality of the upper arm	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001454	HP:0001454	Abnormality of the upper arm	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0001454	HP:0001454	Abnormality of the upper arm	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0001454	HP:0001454	Abnormality of the upper arm	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001454	HP:0001454	Abnormality of the upper arm	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0001454	HP:0001454	Abnormality of the upper arm	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0001454	HP:0001454	Abnormality of the upper arm	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0001454	HP:0001454	Abnormality of the upper arm	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6		223
HP:0001454	HP:0001454	Abnormality of the upper arm	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis		66
HP:0001454	HP:0001454	Abnormality of the upper arm	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0001454	HP:0001454	Abnormality of the upper arm	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0001454	HP:0001454	Abnormality of the upper arm	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0001454	HP:0001454	Abnormality of the upper arm	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0001454	HP:0001454	Abnormality of the upper arm	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0001454	HP:0001454	Abnormality of the upper arm	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0001454	HP:0001454	Abnormality of the upper arm	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0001454	HP:0001454	Abnormality of the upper arm	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome		123
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0001454	HP:0001454	Abnormality of the upper arm	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0001454	HP:0001454	Abnormality of the upper arm	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0001454	HP:0001454	Abnormality of the upper arm	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0001454	HP:0001454	Abnormality of the upper arm	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0001454	HP:0003063	Abnormality of the humerus	1	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3		117
HP:0001454	HP:0003063	Abnormality of the humerus	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0001454	HP:0003063	Abnormality of the humerus	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0001454	HP:0003063	Abnormality of the humerus	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0001454	HP:0003063	Abnormality of the humerus	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0001454	HP:0003063	Abnormality of the humerus	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0001454	HP:0003063	Abnormality of the humerus	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0001454	HP:0003063	Abnormality of the humerus	1	CYP26B1 CL E G H	56603	20581	OMIM:614416	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA		4
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0001454	HP:0003063	Abnormality of the humerus	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0001454	HP:0003063	Abnormality of the humerus	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0001454	HP:0003063	Abnormality of the humerus	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0001454	HP:0003063	Abnormality of the humerus	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0001454	HP:0003063	Abnormality of the humerus	1	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0001454	HP:0003063	Abnormality of the humerus	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0001454	HP:0003063	Abnormality of the humerus	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0001454	HP:0003063	Abnormality of the humerus	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0001454	HP:0003063	Abnormality of the humerus	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0001454	HP:0003063	Abnormality of the humerus	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0001454	HP:0003063	Abnormality of the humerus	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040282 - Frequent	233
HP:0001454	HP:0003063	Abnormality of the humerus	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0001454	HP:0003063	Abnormality of the humerus	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent	233
HP:0001454	HP:0003063	Abnormality of the humerus	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0001454	HP:0003063	Abnormality of the humerus	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0001454	HP:0003063	Abnormality of the humerus	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0001454	HP:0003063	Abnormality of the humerus	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0001454	HP:0003063	Abnormality of the humerus	1	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2		52
HP:0001454	HP:0003063	Abnormality of the humerus	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0001454	HP:0003063	Abnormality of the humerus	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2		58
HP:0001454	HP:0003063	Abnormality of the humerus	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001454	HP:0003063	Abnormality of the humerus	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia		99
HP:0001454	HP:0003063	Abnormality of the humerus	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0001454	HP:0003063	Abnormality of the humerus	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0001454	HP:0003063	Abnormality of the humerus	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0001454	HP:0003063	Abnormality of the humerus	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0001454	HP:0003063	Abnormality of the humerus	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0001454	HP:0003063	Abnormality of the humerus	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0001454	HP:0003063	Abnormality of the humerus	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001454	HP:0003063	Abnormality of the humerus	1	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia		106
HP:0001454	HP:0003063	Abnormality of the humerus	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001454	HP:0003063	Abnormality of the humerus	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0001454	HP:0003063	Abnormality of the humerus	1	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0001454	HP:0003063	Abnormality of the humerus	1	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0001454	HP:0003063	Abnormality of the humerus	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001454	HP:0003063	Abnormality of the humerus	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001454	HP:0003063	Abnormality of the humerus	1	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0001454	HP:0003063	Abnormality of the humerus	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0001454	HP:0003063	Abnormality of the humerus	1	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent	8
HP:0001454	HP:0003063	Abnormality of the humerus	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0001454	HP:0003063	Abnormality of the humerus	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0001454	HP:0003063	Abnormality of the humerus	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0001454	HP:0003063	Abnormality of the humerus	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0001454	HP:0003063	Abnormality of the humerus	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0001454	HP:0003063	Abnormality of the humerus	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001454	HP:0003063	Abnormality of the humerus	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0001454	HP:0003063	Abnormality of the humerus	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001454	HP:0003063	Abnormality of the humerus	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0001454	HP:0003063	Abnormality of the humerus	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0001454	HP:0003063	Abnormality of the humerus	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001454	HP:0003063	Abnormality of the humerus	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0001454	HP:0003063	Abnormality of the humerus	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0001454	HP:0003063	Abnormality of the humerus	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6		223
HP:0001454	HP:0003063	Abnormality of the humerus	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0001454	HP:0003063	Abnormality of the humerus	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0001454	HP:0003063	Abnormality of the humerus	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0001454	HP:0003063	Abnormality of the humerus	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0001454	HP:0003063	Abnormality of the humerus	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0001454	HP:0003063	Abnormality of the humerus	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0001454	HP:0003063	Abnormality of the humerus	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0001454	HP:0003063	Abnormality of the humerus	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0001454	HP:0003063	Abnormality of the humerus	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0001454	HP:0003063	Abnormality of the humerus	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0001454	HP:0003063	Abnormality of the humerus	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040283 - Occasional	123
HP:0001454	HP:0003063	Abnormality of the humerus	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0001454	HP:0003063	Abnormality of the humerus	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent	13
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0001454	HP:0003063	Abnormality of the humerus	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0001454	HP:0003063	Abnormality of the humerus	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001454	HP:0001457	Abnormality of the musculature of the upper arm	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0001454	HP:0003063	Abnormality of the humerus	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0001454	HP:0003063	Abnormality of the humerus	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0001454	HP:0003063	Abnormality of the humerus	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0001454	HP:0003063	Abnormality of the humerus	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0001454	HP:0003063	Abnormality of the humerus	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0001454	HP:0033449	Decreased mid-arm muscle circumference	2	CL E G H
HP:0001454	HP:0003878	Periosteal new bone of humerus	2	CL E G H
HP:0001454	HP:0033448	Increased mid-arm muscle circumference	2	CL E G H
HP:0001454	HP:0003884	Triangular humerus	2	CL E G H
HP:0001454	HP:0003876	Osteoporotic humerus	2	CL E G H
HP:0001454	HP:0003881	Humeral sclerosis	2	CL E G H
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3		117
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0001454	HP:0031095	Abnormal humerus morphology	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0001454	HP:0031095	Abnormal humerus morphology	2	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0001454	HP:0031095	Abnormal humerus morphology	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0001454	HP:0031095	Abnormal humerus morphology	2	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0001454	HP:0003041	Humeroradial synostosis	2	CYP26B1 CL E G H	56603	20581	OMIM:614416	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA		4
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0001454	HP:0003041	Humeroradial synostosis	2	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0001454	HP:0003891	Abnormality of the humeral epiphysis	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0001454	HP:0012791	Abnormal humeral ossification	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0001454	HP:0003907	Abnormal humeral metaphysis morphology	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0001454	HP:0003041	Humeroradial synostosis	2	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0001454	HP:0003041	Humeroradial synostosis	2	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0001454	HP:0003041	Humeroradial synostosis	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0001454	HP:0003041	Humeroradial synostosis	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0001454	HP:0003041	Humeroradial synostosis	2	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0001454	HP:0003891	Abnormality of the humeral epiphysis	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0001454	HP:0012791	Abnormal humeral ossification	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0001454	HP:0031095	Abnormal humerus morphology	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0001454	HP:0003041	Humeroradial synostosis	2	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2	.	52
HP:0001454	HP:0003907	Abnormal humeral metaphysis morphology	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0001454	HP:0003891	Abnormality of the humeral epiphysis	2	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2		58
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2		58
HP:0001454	HP:0031095	Abnormal humerus morphology	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia		99
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0001454	HP:0006595	Scapulohumeral synostosis	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0001454	HP:0031095	Abnormal humerus morphology	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0001454	HP:0031095	Abnormal humerus morphology	2	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0001454	HP:0031095	Abnormal humerus morphology	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia		106
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001454	HP:0001468	Aplasia/Hypoplasia involving the musculature of the upper arm	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0001454	HP:0031095	Abnormal humerus morphology	2	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001454	HP:0003041	Humeroradial synostosis	2	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0001454	HP:0003041	Humeroradial synostosis	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0001454	HP:0003041	Humeroradial synostosis	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0001454	HP:0003041	Humeroradial synostosis	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0001454	HP:0031095	Abnormal humerus morphology	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001454	HP:0003041	Humeroradial synostosis	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent	10
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0001454	HP:0031095	Abnormal humerus morphology	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001454	HP:0031095	Abnormal humerus morphology	2	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	HP:0040282 - Frequent	223
HP:0001454	HP:0031095	Abnormal humerus morphology	2	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0001454	HP:0031095	Abnormal humerus morphology	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0001454	HP:0003907	Abnormal humeral metaphysis morphology	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0001454	HP:0003041	Humeroradial synostosis	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate	5
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0001454	HP:0003891	Abnormality of the humeral epiphysis	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001454	HP:0008948	Proximal upper limb amyotrophy	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0001454	HP:0003907	Abnormal humeral metaphysis morphology	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0001454	HP:0003907	Abnormal humeral metaphysis morphology	2	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0001454	HP:0003041	Humeroradial synostosis	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional	13
HP:0001454	HP:0003041	Humeroradial synostosis	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0001454	HP:0006507	Aplasia/hypoplasia of the humerus	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0001454	HP:0041055	Fractured humerus	3	CL E G H
HP:0001454	HP:0003915	Lytic defects of the humeral metaphysis	3	CL E G H
HP:0001454	HP:0003893	Advanced ossification of the humeral epiphysis	3	CL E G H
HP:0001454	HP:0003871	Deformed humerus	3	CL E G H
HP:0001454	HP:0003903	Broad humeral epiphyses	3	CL E G H
HP:0001454	HP:0003880	Sclerotic foci of the humerus	3	CL E G H
HP:0001454	HP:0003914	Irregular ossification of humeral metaphyses	3	CL E G H
HP:0001454	HP:0003892	Absent humeral epiphyseal ossification	3	CL E G H
HP:0001454	HP:0003870	Crumpled humerus	3	CL E G H
HP:0001454	HP:0003920	Sloping humeral metaphysis	3	CL E G H
HP:0001454	HP:0006441	Lateral humeral condyle aplasia	3	CL E G H
HP:0001454	HP:0003900	Small humeral epiphyses	3	CL E G H
HP:0001454	HP:0003913	Humeral metaphyseal irregularity	3	CL E G H
HP:0001454	HP:0003885	Undermodeled humerus	3	CL E G H
HP:0001454	HP:0003899	Round humeral epiphyses	3	CL E G H
HP:0001454	HP:0003877	Oval transradiancy of humerus	3	CL E G H
HP:0001454	HP:0003912	Frayed humeral metaphyses	3	CL E G H
HP:0001454	HP:0003918	Sclerotic humeral metaphysis	3	CL E G H
HP:0001454	HP:0003898	Large humeral epiphyses	3	CL E G H
HP:0001454	HP:0003924	Stippled calcification of humeral metaphysis	3	CL E G H
HP:0001454	HP:0010629	Abnormal morphology of the cortex of the humerus	3	CL E G H
HP:0001454	HP:0003910	Enlarged humeral metaphyses	3	CL E G H
HP:0001454	HP:0003883	Tapered humerus	3	CL E G H
HP:0001454	HP:0003917	Pointed humeral metaphysis	3	CL E G H
HP:0001454	HP:0003896	Irregular humeral epiphyses	3	CL E G H
HP:0001454	HP:0003923	Square humeral metaphysis	3	CL E G H
HP:0001454	HP:0003875	Humeral lytic defects	3	CL E G H
HP:0001454	HP:0010599	Abnormality of the distal humeral epiphysis	3	CL E G H
HP:0001454	HP:0003882	Slender humerus	3	CL E G H
HP:0001454	HP:0003916	Normal-density transverse humeral bands	3	CL E G H
HP:0001454	HP:0003866	Coarse humeral trabeculae	3	CL E G H
HP:0001454	HP:0003894	Delayed humeral epiphyseal ossification	3	CL E G H
HP:0001454	HP:0003922	Spurred humeral metaphysis	3	CL E G H
HP:0001454	HP:0003872	Humeral exostoses	3	CL E G H
HP:0001454	HP:0010598	Abnormality of the proximal humeral epiphysis	3	CL E G H
HP:0001454	HP:0003905	Abnormality of the humeral epiphyseal plate	3	CL E G H
HP:0001454	HP:0005792	Short humerus	3	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3	.	117
HP:0001454	HP:0005792	Short humerus	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0001454	HP:0005792	Short humerus	3	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0001454	HP:0003874	Humerus varus	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0001454	HP:0003865	Bowed humerus	3	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0001454	HP:0003887	Abnormal humeral head morphology	3	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0001454	HP:0003863	Angulated humerus	3	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0001454	HP:0003897	Irregular ossification of the humeral epiphyses	3	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0001454	HP:0003911	Flared humeral metaphysis	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0001454	HP:0005792	Short humerus	3	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0001454	HP:0005792	Short humerus	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0001454	HP:0003862	Absent humerus	3	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0001454	HP:0003897	Irregular ossification of the humeral epiphyses	3	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0001454	HP:0005792	Short humerus	3	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0001454	HP:0003865	Bowed humerus	3	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0001454	HP:0005792	Short humerus	3	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040281 - Very frequent
HP:0001454	HP:0005792	Short humerus	3	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0001454	HP:0005025	Hypoplastic distal humeri	3	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0001454	HP:0005792	Short humerus	3	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0001454	HP:0003909	Cortical subperiosteal resorption of humeral metaphyses	3	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0001454	HP:0005792	Short humerus	3	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.	58
HP:0001454	HP:0003901	Stippled calcification of the humeral epiphyses	3	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2		58
HP:0001454	HP:0003887	Abnormal humeral head morphology	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001454	HP:0005025	Hypoplastic distal humeri	3	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent	99
HP:0001454	HP:0005025	Hypoplastic distal humeri	3	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0001454	HP:0005792	Short humerus	3	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0001454	HP:0005792	Short humerus	3	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0001454	HP:0005792	Short humerus	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0001454	HP:0005792	Short humerus	3	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0001454	HP:0003865	Bowed humerus	3	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0001454	HP:0005792	Short humerus	3	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0001454	HP:0003865	Bowed humerus	3	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0001454	HP:0003865	Bowed humerus	3	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001454	HP:0005792	Short humerus	3	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia	HP:0040281 - Very frequent	106
HP:0001454	HP:0005792	Short humerus	3	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0001454	HP:0009782	Aplasia/Hypoplasia of the biceps	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001454	HP:0009784	Aplasia/Hypoplasia of the triceps	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001454	HP:0005792	Short humerus	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0001454	HP:0003886	Wide humerus	3	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0001454	HP:0005792	Short humerus	3	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0001454	HP:0005792	Short humerus	3	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0001454	HP:0005792	Short humerus	3	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0001454	HP:0005792	Short humerus	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0001454	HP:0005792	Short humerus	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0001454	HP:0003926	Abnormal humeral diaphysis morphology	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001454	HP:0005792	Short humerus	3	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0001454	HP:0003865	Bowed humerus	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0001454	HP:0005792	Short humerus	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0001454	HP:0003865	Bowed humerus	3	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0001454	HP:0005792	Short humerus	3	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0001454	HP:0005792	Short humerus	3	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0001454	HP:0003864	Bifid humerus	3	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0001454	HP:0005792	Short humerus	3	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0001454	HP:0003879	Humeral pseudarthrosis	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0001454	HP:0003909	Cortical subperiosteal resorption of humeral metaphyses	3	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0001454	HP:0005792	Short humerus	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0001454	HP:0005792	Short humerus	3	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0001454	HP:0005792	Short humerus	3	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001454	HP:0005792	Short humerus	3	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0001454	HP:0003895	Flattened humeral epiphyses	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0001454	HP:0003911	Flared humeral metaphysis	3	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214
HP:0001454	HP:0005792	Short humerus	3	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39
HP:0001454	HP:0003935	Wide humeral diaphysis	4	CL E G H
HP:0001454	HP:0003921	Laterally sloping humeral metaphysis	4	CL E G H
HP:0001454	HP:0009007	Biceps hypoplasia	4	CL E G H
HP:0001454	HP:0003928	Cortical thickening of humeral diaphysis	4	CL E G H
HP:0001454	HP:0003934	Slender humeral diaphysis	4	CL E G H
HP:0001454	HP:0003933	Sclerosis of humeral diaphysis	4	CL E G H
HP:0001454	HP:0003869	Humeral cortical thinning	4	CL E G H
HP:0001454	HP:0003919	Sclerotic humeral metaphysis with longitudinal striations	4	CL E G H
HP:0001454	HP:0005825	Mixed sclerosis of humeral metaphyses	4	CL E G H
HP:0001454	HP:0003927	Cortical irregularity of humeral diaphysis	4	CL E G H
HP:0001454	HP:0033262	Transphyseal fracture of the distal humerus	4	CL E G H
HP:0001454	HP:0003932	Sclerotic foci of humeral diaphysis	4	CL E G H
HP:0001454	HP:0003868	Humeral cortical thickening	4	CL E G H
HP:0001454	HP:0005687	Deformed humeral heads	4	CL E G H
HP:0001454	HP:0003931	Periosteal new bone of humeral diaphysis	4	CL E G H
HP:0001454	HP:0100855	Triceps hypoplasia	4	CL E G H
HP:0001454	HP:0003867	Humeral cortical irregularity	4	CL E G H
HP:0001454	HP:0005043	Proximal humeral metaphyseal irregularity	4	CL E G H
HP:0001454	HP:0003906	Broad humeral epiphyseal plate	4	CL E G H
HP:0001454	HP:0003930	Lytic defects of humeral diaphysis	4	CL E G H
HP:0001454	HP:0041088	Avulsion fractured humerus	4	CL E G H
HP:0001454	HP:0003951	Distal humeral metaphyseal irregularity	4	CL E G H
HP:0001454	HP:0003929	Ground glass opacity of humeral diaphysis	4	CL E G H
HP:0001454	HP:0003888	Flattened humeral heads	4	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0001454	HP:0004997	Multicentric ossification of proximal humeral epiphyses	4	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0001454	HP:0003902	Epiphyseal stippling of the humerus	4	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0001454	HP:0008838	Stippled calcification proximal humeral epiphyses	4	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.	58
HP:0001454	HP:0006362	Varus deformity of humeral neck	4	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0001454	HP:0009785	Triceps aplasia	4	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0001454	HP:0009783	Biceps aplasia	4	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0001454	HP:0003889	Abnormal deltoid tuberosity morphology	4	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001454	HP:0003927	Cortical irregularity of humeral diaphysis	5	CL E G H
HP:0001454	HP:0003890	Prominent deltoid tuberosities	5	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4