Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the musculature of the upper limbs (HP:0001446)

Parent Node:
Abnormal scapula morphology (HP:0000782)

Parent Node:
Abnormality of the shoulder girdle musculature (HP:0001435)

..Starting node
..Scapular winging (HP:0003691)

Term ID:

3691

Name:

Scapular winging

Synonym:

Scapula alata; Scapular weakness; Winged scapulae; Winged scapulas; Winged shoulder blade

Definition:

Abnormal protrusion of the scapula away from the surface of the back.

Comments:

Reference:

HP:0003691

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amyotrophy involving the shoulder musculature (HP:0001465)

Aplasia/Hypoplasia involving the shoulder musculature (HP:0001464)

Pectoral muscle hypoplasia/aplasia (HP:0005258)

Shoulder girdle muscle weakness (HP:0003547)

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:0003691	HP:0003691	Scapular winging	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0003691	HP:0003691	Scapular winging	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0003691	HP:0003691	Scapular winging	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0003691	HP:0003691	Scapular winging	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0003691	HP:0003691	Scapular winging	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	HP:0040283 - Occasional	46
HP:0003691	HP:0003691	Scapular winging	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional	304
HP:0003691	HP:0003691	Scapular winging	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003691	HP:0003691	Scapular winging	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0003691	HP:0003691	Scapular winging	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0003691	HP:0003691	Scapular winging	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional	46
HP:0003691	HP:0003691	Scapular winging	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0003691	HP:0003691	Scapular winging	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	HP:0040283 - Occasional	99
HP:0003691	HP:0003691	Scapular winging	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	276
HP:0003691	HP:0003691	Scapular winging	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0003691	HP:0003691	Scapular winging	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0003691	HP:0003691	Scapular winging	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.	323
HP:0003691	HP:0003691	Scapular winging	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.	323
HP:0003691	HP:0003691	Scapular winging	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0003691	HP:0003691	Scapular winging	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0003691	HP:0003691	Scapular winging	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0003691	HP:0003691	Scapular winging	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0003691	HP:0003691	Scapular winging	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0003691	HP:0003691	Scapular winging	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0003691	HP:0003691	Scapular winging	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0003691	HP:0003691	Scapular winging	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040283 - Occasional
HP:0003691	HP:0003691	Scapular winging	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0003691	HP:0003691	Scapular winging	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0003691	HP:0003691	Scapular winging	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0003691	HP:0003691	Scapular winging	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0003691	HP:0003691	Scapular winging	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0003691	HP:0003691	Scapular winging	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0003691	HP:0003691	Scapular winging	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0003691	HP:0003691	Scapular winging	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0003691	HP:0003691	Scapular winging	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0003691	HP:0003691	Scapular winging	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0003691	HP:0003691	Scapular winging	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome	.	135
HP:0003691	HP:0003691	Scapular winging	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0003691	HP:0003691	Scapular winging	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0003691	HP:0003691	Scapular winging	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.	68
HP:0003691	HP:0003691	Scapular winging	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0003691	HP:0003691	Scapular winging	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0003691	HP:0003691	Scapular winging	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0003691	HP:0003691	Scapular winging	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0003691	HP:0003691	Scapular winging	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0003691	HP:0003691	Scapular winging	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0003691	HP:0003691	Scapular winging	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0003691	HP:0003691	Scapular winging	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0003691	HP:0003691	Scapular winging	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040283 - Occasional	173
HP:0003691	HP:0003691	Scapular winging	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0003691	HP:0003691	Scapular winging	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0003691	HP:0003691	Scapular winging	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0003691	HP:0003691	Scapular winging	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0003691	HP:0003691	Scapular winging	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	92
HP:0003691	HP:0003691	Scapular winging	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.	6
HP:0003691	HP:0003691	Scapular winging	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003691	HP:0003691	Scapular winging	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003691	HP:0003691	Scapular winging	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0003691	HP:0003691	Scapular winging	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0003691	HP:0003691	Scapular winging	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0003691	HP:0003691	Scapular winging	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	HP:0040283 - Occasional	105
HP:0003691	HP:0003691	Scapular winging	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0003691	HP:0003691	Scapular winging	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0003691	HP:0003691	Scapular winging	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0003691	HP:0003691	Scapular winging	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	HP:0040283 - Occasional	217
HP:0003691	HP:0003691	Scapular winging	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0003691	HP:0003691	Scapular winging	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0003691	HP:0003691	Scapular winging	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0003691	HP:0003691	Scapular winging	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0003691	HP:0003691	Scapular winging	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0003691	HP:0003691	Scapular winging	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0003691	HP:0003691	Scapular winging	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0003691	HP:0003691	Scapular winging	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0003691	HP:0003691	Scapular winging	0	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z	.	6
HP:0003691	HP:0003691	Scapular winging	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0003691	HP:0003691	Scapular winging	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003691	HP:0003691	Scapular winging	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional	221
HP:0003691	HP:0003691	Scapular winging	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0003691	HP:0003691	Scapular winging	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0003691	HP:0003691	Scapular winging	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	291
HP:0003691	HP:0003691	Scapular winging	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003691	HP:0003691	Scapular winging	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	212
HP:0003691	HP:0003691	Scapular winging	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0003691	HP:0003691	Scapular winging	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0003691	HP:0003691	Scapular winging	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040282 - Frequent
HP:0003691	HP:0003691	Scapular winging	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent	132
HP:0003691	HP:0003691	Scapular winging	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0003691	HP:0003691	Scapular winging	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0003691	HP:0003691	Scapular winging	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	HP:0040282 - Frequent	223
HP:0003691	HP:0003691	Scapular winging	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F	.	223
HP:0003691	HP:0003691	Scapular winging	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0003691	HP:0003691	Scapular winging	0	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0003691	HP:0003691	Scapular winging	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0003691	HP:0003691	Scapular winging	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0003691	HP:0003691	Scapular winging	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0003691	HP:0003691	Scapular winging	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0003691	HP:0003691	Scapular winging	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0003691	HP:0003691	Scapular winging	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0003691	HP:0003691	Scapular winging	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0003691	HP:0003691	Scapular winging	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040284 - Very rare	103
HP:0003691	HP:0003691	Scapular winging	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.	103
HP:0003691	HP:0003691	Scapular winging	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0003691	HP:0003691	Scapular winging	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0003691	HP:0003691	Scapular winging	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0003691	HP:0003691	Scapular winging	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0003691	HP:0003691	Scapular winging	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0003691	HP:0003691	Scapular winging	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0003691	HP:0003691	Scapular winging	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0003691	HP:0003691	Scapular winging	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0003691	HP:0003691	Scapular winging	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0003691	HP:0003691	Scapular winging	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003691	HP:0003691	Scapular winging	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003691	HP:0003691	Scapular winging	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63
HP:0003691	HP:0003691	Scapular winging	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0003691	HP:0003691	Scapular winging	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63
HP:0003691	HP:0003691	Scapular winging	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO

Genes (88) :ACTA1 ALG14 ALG2 ANO5 ANXA11 ASH1L ATP6V0A2 BICD2 BIN1 BRAF C19ORF12 CAPN3 CCDC8 COL12A1 COL6A1 COL6A2 COL6A3 COLQ CRPPA CSGALNACT1 CUL7 DNM1L DPAGT1 DSTYK DYSF EMD EMILIN1 EYA1 FBN1 FHL1 FLNA FLNB FRG1 GDF11 GFPT1 GMPPB GNE GYG1 KBTBD13 KCNJ2 KLHL41 LAMB2 LGI4 LMNA LRIF1 MYBPC1 MYH2 MYH7 MYPN NEB NEFL OBSL1 OPA1 PAX1 PAX3 POGLUT1 POLG POMT2 PRR12 PTPN11 PYROXD1 RAF1 RYR1 SEPTIN9 SGCA SGCB SGCD SGCG SMCHD1 SMPX SPEG SPRED2 SQSTM1 SYNE1 SYNE2 TGFB3 TK2 TMEM43 TNPO3 TPM2 TPM3 TRIO TRPS1 TRPV4 TTN TWNK VCP VWA1

Diseases (86) :ORPHA:171439 OMIM:616852 ORPHA:353327 OMIM:616228 ORPHA:206549 OMIM:619733 OMIM:617796 OMIM:278250 OMIM:615290 ORPHA:169186 OMIM:255200 ORPHA:500 OMIM:614298 ORPHA:267 OMIM:618129 OMIM:253600 ORPHA:2616 ORPHA:610 OMIM:616471 ORPHA:98915 ORPHA:352479 OMIM:616052 OMIM:618870 OMIM:273750 ORPHA:98673 OMIM:270750 ORPHA:268 ORPHA:98863 OMIM:620080 OMIM:166780 ORPHA:2792 OMIM:616914 OMIM:300696 OMIM:300695 OMIM:305620 OMIM:272460 OMIM:158900 OMIM:619122 ORPHA:602 OMIM:613507 OMIM:170390 OMIM:617468 ORPHA:98853 ORPHA:98855 OMIM:181350 OMIM:619477 OMIM:618524 OMIM:605637 ORPHA:437572 OMIM:608358 OMIM:617336 ORPHA:101085 OMIM:612921 OMIM:615560 OMIM:148820 OMIM:617232 ORPHA:254886 OMIM:607459 ORPHA:206559 OMIM:619539 OMIM:151100 OMIM:617258 ORPHA:424107 ORPHA:2901 ORPHA:62 OMIM:608099 OMIM:604286 ORPHA:219 OMIM:601287 ORPHA:353 OMIM:158901 OMIM:301075 OMIM:619745 OMIM:617158 OMIM:615582 OMIM:617069 OMIM:608423 OMIM:609285 OMIM:617061 OMIM:190350 OMIM:181405 OMIM:603689 ORPHA:329478 ORPHA:435387 OMIM:167320 OMIM:619216

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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