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 facial musculature (HP:0000301)

Parent Node:
Abnormality of the seventh cranial nerve (HP:0010827)

Parent Node:
Cranial nerve paralysis (HP:0006824)

Parent Node:
Muscle weakness (HP:0001324)

Parent Node:
Weakness of facial musculature (HP:0030319)

..Starting node
..Facial palsy (HP:0010628)

Term ID:

10628

Name:

Facial palsy

Synonym:

Bell's palsy; Cranial nerve VII palsy; Facial muscle weakness of muscles innervated by CN VII; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy

Definition:

Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.

Comments:

Reference:

HP:0010628

Genes and Diseases:

Child Nodes:

........

Facial diplegia (HP:0001349)

................... HP:0007188 Congenital facial diplegia

........

Frontalis muscle weakness (HP:0004661)

........

Unilateral facial palsy (HP:0012799)

........

Bilateral facial palsy (HP:0430025)

Sister Nodes:

Facial paralysis (HP:0007209)

Weakness of orbicularis oculi muscle (HP:0012507)

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:0010628	HP:0010628	Facial palsy	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0010628	HP:0010628	Facial palsy	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0010628	HP:0010628	Facial palsy	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.	90
HP:0010628	HP:0010628	Facial palsy	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0010628	HP:0010628	Facial palsy	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0010628	HP:0010628	Facial palsy	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0010628	HP:0010628	Facial palsy	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0010628	HP:0010628	Facial palsy	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0010628	HP:0010628	Facial palsy	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0010628	HP:0010628	Facial palsy	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0010628	HP:0010628	Facial palsy	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0010628	HP:0010628	Facial palsy	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.	22
HP:0010628	HP:0010628	Facial palsy	0	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8		2
HP:0010628	HP:0010628	Facial palsy	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0010628	HP:0010628	Facial palsy	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0010628	HP:0010628	Facial palsy	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0010628	HP:0010628	Facial palsy	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0010628	HP:0010628	Facial palsy	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0010628	HP:0010628	Facial palsy	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0010628	HP:0010628	Facial palsy	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0010628	HP:0010628	Facial palsy	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0010628	HP:0010628	Facial palsy	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0010628	HP:0010628	Facial palsy	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0010628	HP:0010628	Facial palsy	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional	164
HP:0010628	HP:0010628	Facial palsy	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0010628	HP:0010628	Facial palsy	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional	304
HP:0010628	HP:0010628	Facial palsy	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0010628	HP:0010628	Facial palsy	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0010628	HP:0010628	Facial palsy	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0010628	HP:0010628	Facial palsy	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0010628	HP:0010628	Facial palsy	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0010628	HP:0010628	Facial palsy	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	99
HP:0010628	HP:0010628	Facial palsy	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0010628	HP:0010628	Facial palsy	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	1
HP:0010628	HP:0010628	Facial palsy	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0010628	HP:0010628	Facial palsy	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.	1
HP:0010628	HP:0010628	Facial palsy	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	HP:0040283 - Occasional	323
HP:0010628	HP:0010628	Facial palsy	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0010628	HP:0010628	Facial palsy	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0010628	HP:0010628	Facial palsy	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.	11
HP:0010628	HP:0010628	Facial palsy	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0010628	HP:0010628	Facial palsy	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0010628	HP:0010628	Facial palsy	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.	53
HP:0010628	HP:0010628	Facial palsy	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0010628	HP:0010628	Facial palsy	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0010628	HP:0010628	Facial palsy	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	.	53
HP:0010628	HP:0010628	Facial palsy	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0010628	HP:0010628	Facial palsy	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.	88
HP:0010628	HP:0010628	Facial palsy	0	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	.	88
HP:0010628	HP:0010628	Facial palsy	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0010628	HP:0010628	Facial palsy	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.	139
HP:0010628	HP:0010628	Facial palsy	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0010628	HP:0010628	Facial palsy	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0010628	HP:0010628	Facial palsy	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent	102
HP:0010628	HP:0010628	Facial palsy	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0010628	HP:0010628	Facial palsy	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.	102
HP:0010628	HP:0010628	Facial palsy	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7		9
HP:0010628	HP:0010628	Facial palsy	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0010628	HP:0010628	Facial palsy	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0010628	HP:0010628	Facial palsy	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	HP:0040283 - Occasional	6
HP:0010628	HP:0010628	Facial palsy	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0010628	HP:0010628	Facial palsy	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0010628	HP:0010628	Facial palsy	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0010628	HP:0010628	Facial palsy	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0010628	HP:0010628	Facial palsy	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0010628	HP:0010628	Facial palsy	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0010628	HP:0010628	Facial palsy	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0010628	HP:0010628	Facial palsy	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0010628	HP:0010628	Facial palsy	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0010628	HP:0010628	Facial palsy	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0010628	HP:0010628	Facial palsy	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0010628	HP:0010628	Facial palsy	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.	86
HP:0010628	HP:0010628	Facial palsy	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.	263
HP:0010628	HP:0010628	Facial palsy	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	9
HP:0010628	HP:0010628	Facial palsy	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0010628	HP:0010628	Facial palsy	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0010628	HP:0010628	Facial palsy	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	HP:0040283 - Occasional	103
HP:0010628	HP:0010628	Facial palsy	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0010628	HP:0010628	Facial palsy	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0010628	HP:0010628	Facial palsy	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0010628	HP:0010628	Facial palsy	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	135
HP:0010628	HP:0010628	Facial palsy	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional	135
HP:0010628	HP:0010628	Facial palsy	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0010628	HP:0010628	Facial palsy	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0010628	HP:0010628	Facial palsy	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0010628	HP:0010628	Facial palsy	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0010628	HP:0010628	Facial palsy	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0010628	HP:0010628	Facial palsy	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0010628	HP:0010628	Facial palsy	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040282 - Frequent	121
HP:0010628	HP:0010628	Facial palsy	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0010628	HP:0010628	Facial palsy	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0010628	HP:0010628	Facial palsy	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0010628	HP:0010628	Facial palsy	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0010628	HP:0010628	Facial palsy	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional	68
HP:0010628	HP:0010628	Facial palsy	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0010628	HP:0010628	Facial palsy	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0010628	HP:0010628	Facial palsy	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0010628	HP:0010628	Facial palsy	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0010628	HP:0010628	Facial palsy	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0010628	HP:0010628	Facial palsy	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040283 - Occasional	173
HP:0010628	HP:0010628	Facial palsy	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent	53
HP:0010628	HP:0010628	Facial palsy	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0010628	HP:0010628	Facial palsy	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0010628	HP:0010628	Facial palsy	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.	2
HP:0010628	HP:0010628	Facial palsy	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	124
HP:0010628	HP:0010628	Facial palsy	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0010628	HP:0010628	Facial palsy	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0010628	HP:0010628	Facial palsy	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0010628	HP:0010628	Facial palsy	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0010628	HP:0010628	Facial palsy	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0010628	HP:0010628	Facial palsy	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0010628	HP:0010628	Facial palsy	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0010628	HP:0010628	Facial palsy	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0010628	HP:0010628	Facial palsy	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0010628	HP:0010628	Facial palsy	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0010628	HP:0010628	Facial palsy	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	92
HP:0010628	HP:0010628	Facial palsy	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0010628	HP:0010628	Facial palsy	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0010628	HP:0010628	Facial palsy	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.	11
HP:0010628	HP:0010628	Facial palsy	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0010628	HP:0010628	Facial palsy	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0010628	HP:0010628	Facial palsy	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0010628	HP:0010628	Facial palsy	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0010628	HP:0010628	Facial palsy	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040282 - Frequent	124
HP:0010628	HP:0010628	Facial palsy	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.	124
HP:0010628	HP:0010628	Facial palsy	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040283 - Occasional	125
HP:0010628	HP:0010628	Facial palsy	0	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040282 - Frequent	125
HP:0010628	HP:0010628	Facial palsy	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040283 - Occasional	125
HP:0010628	HP:0010628	Facial palsy	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0010628	HP:0010628	Facial palsy	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.	11
HP:0010628	HP:0010628	Facial palsy	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0010628	HP:0010628	Facial palsy	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0010628	HP:0010628	Facial palsy	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0010628	HP:0010628	Facial palsy	0	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.	88
HP:0010628	HP:0010628	Facial palsy	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0010628	HP:0010628	Facial palsy	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0010628	HP:0010628	Facial palsy	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.	72
HP:0010628	HP:0010628	Facial palsy	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0010628	HP:0010628	Facial palsy	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0010628	HP:0010628	Facial palsy	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0010628	HP:0010628	Facial palsy	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0010628	HP:0010628	Facial palsy	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0010628	HP:0010628	Facial palsy	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0010628	HP:0010628	Facial palsy	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent	5
HP:0010628	HP:0010628	Facial palsy	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0010628	HP:0010628	Facial palsy	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0010628	HP:0010628	Facial palsy	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0010628	HP:0010628	Facial palsy	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0010628	HP:0010628	Facial palsy	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.	217
HP:0010628	HP:0010628	Facial palsy	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0010628	HP:0010628	Facial palsy	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0010628	HP:0010628	Facial palsy	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0010628	HP:0010628	Facial palsy	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0010628	HP:0010628	Facial palsy	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0010628	HP:0010628	Facial palsy	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional	118
HP:0010628	HP:0010628	Facial palsy	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0010628	HP:0010628	Facial palsy	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0010628	HP:0010628	Facial palsy	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0010628	HP:0010628	Facial palsy	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0010628	HP:0010628	Facial palsy	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.	10
HP:0010628	HP:0010628	Facial palsy	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0010628	HP:0010628	Facial palsy	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	169
HP:0010628	HP:0010628	Facial palsy	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	75
HP:0010628	HP:0010628	Facial palsy	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	4
HP:0010628	HP:0010628	Facial palsy	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	65
HP:0010628	HP:0010628	Facial palsy	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	66
HP:0010628	HP:0010628	Facial palsy	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	46
HP:0010628	HP:0010628	Facial palsy	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	59
HP:0010628	HP:0010628	Facial palsy	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	62
HP:0010628	HP:0010628	Facial palsy	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	82
HP:0010628	HP:0010628	Facial palsy	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	106
HP:0010628	HP:0010628	Facial palsy	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	47
HP:0010628	HP:0010628	Facial palsy	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	99
HP:0010628	HP:0010628	Facial palsy	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	98
HP:0010628	HP:0010628	Facial palsy	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0010628	HP:0010628	Facial palsy	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0010628	HP:0010628	Facial palsy	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	759
HP:0010628	HP:0010628	Facial palsy	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0010628	HP:0010628	Facial palsy	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent
HP:0010628	HP:0010628	Facial palsy	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0010628	HP:0010628	Facial palsy	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0010628	HP:0010628	Facial palsy	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0010628	HP:0010628	Facial palsy	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0010628	HP:0010628	Facial palsy	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0010628	HP:0010628	Facial palsy	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0010628	HP:0010628	Facial palsy	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0010628	HP:0010628	Facial palsy	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0010628	HP:0010628	Facial palsy	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.	213
HP:0010628	HP:0010628	Facial palsy	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0010628	HP:0010628	Facial palsy	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0010628	HP:0010628	Facial palsy	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0010628	HP:0010628	Facial palsy	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent	6
HP:0010628	HP:0010628	Facial palsy	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0010628	HP:0010628	Facial palsy	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0010628	HP:0010628	Facial palsy	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent	3
HP:0010628	HP:0010628	Facial palsy	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0010628	HP:0010628	Facial palsy	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0010628	HP:0010628	Facial palsy	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0010628	HP:0010628	Facial palsy	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0010628	HP:0010628	Facial palsy	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent	1200
HP:0010628	HP:0010628	Facial palsy	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0010628	HP:0010628	Facial palsy	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0010628	HP:0010628	Facial palsy	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0010628	HP:0010628	Facial palsy	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect		40
HP:0010628	HP:0010628	Facial palsy	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0010628	HP:0010628	Facial palsy	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0010628	HP:0010628	Facial palsy	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0010628	HP:0010628	Facial palsy	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	HP:0040282 - Frequent	223
HP:0010628	HP:0010628	Facial palsy	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0010628	HP:0010628	Facial palsy	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0010628	HP:0010628	Facial palsy	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	50
HP:0010628	HP:0010628	Facial palsy	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional	50
HP:0010628	HP:0010628	Facial palsy	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0010628	HP:0010628	Facial palsy	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	10
HP:0010628	HP:0010628	Facial palsy	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0010628	HP:0010628	Facial palsy	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.	2
HP:0010628	HP:0010628	Facial palsy	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0010628	HP:0010628	Facial palsy	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0010628	HP:0010628	Facial palsy	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0010628	HP:0010628	Facial palsy	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0010628	HP:0010628	Facial palsy	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0010628	HP:0010628	Facial palsy	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.	5
HP:0010628	HP:0010628	Facial palsy	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0010628	HP:0010628	Facial palsy	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0010628	HP:0010628	Facial palsy	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood		51
HP:0010628	HP:0010628	Facial palsy	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.	9
HP:0010628	HP:0010628	Facial palsy	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0010628	HP:0010628	Facial palsy	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0010628	HP:0010628	Facial palsy	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0010628	HP:0010628	Facial palsy	0	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0010628	HP:0010628	Facial palsy	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0010628	HP:0010628	Facial palsy	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0010628	HP:0010628	Facial palsy	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.	2
HP:0010628	HP:0010628	Facial palsy	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0010628	HP:0010628	Facial palsy	0	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040282 - Frequent	26
HP:0010628	HP:0010628	Facial palsy	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040282 - Frequent	26
HP:0010628	HP:0010628	Facial palsy	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0010628	HP:0010628	Facial palsy	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	20
HP:0010628	HP:0010628	Facial palsy	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.	20
HP:0010628	HP:0010628	Facial palsy	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	.	3
HP:0010628	HP:0010628	Facial palsy	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0010628	HP:0010628	Facial palsy	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0010628	HP:0010628	Facial palsy	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0010628	HP:0010628	Facial palsy	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0010628	HP:0010628	Facial palsy	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0010628	HP:0010628	Facial palsy	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0010628	HP:0010628	Facial palsy	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0010628	HP:0010628	Facial palsy	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.	82
HP:0010628	HP:0010628	Facial palsy	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0010628	HP:0010628	Facial palsy	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0010628	HP:0010628	Facial palsy	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0010628	HP:0010628	Facial palsy	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	103
HP:0010628	HP:0010628	Facial palsy	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0010628	HP:0010628	Facial palsy	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.	103
HP:0010628	HP:0010628	Facial palsy	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0010628	HP:0010628	Facial palsy	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0010628	HP:0010628	Facial palsy	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0010628	HP:0010628	Facial palsy	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0010628	HP:0010628	Facial palsy	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0010628	HP:0010628	Facial palsy	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54
HP:0010628	HP:0010628	Facial palsy	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0010628	HP:0010628	Facial palsy	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0010628	HP:0010628	Facial palsy	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0010628	HP:0010628	Facial palsy	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0010628	HP:0010628	Facial palsy	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0010628	HP:0010628	Facial palsy	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0010628	HP:0010628	Facial palsy	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0010628	HP:0010628	Facial palsy	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0010628	HP:0010628	Facial palsy	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	7128
HP:0010628	HP:0010628	Facial palsy	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0010628	HP:0010628	Facial palsy	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional	64
HP:0010628	HP:0010628	Facial palsy	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0010628	HP:0010628	Facial palsy	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0010628	HP:0010628	Facial palsy	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0010628	HP:0010628	Facial palsy	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional
HP:0010628	HP:0010628	Facial palsy	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0010628	HP:0010628	Facial palsy	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0010628	HP:0010628	Facial palsy	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	HP:0040283 - Occasional	63
HP:0010628	HP:0010628	Facial palsy	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0010628	HP:0010628	Facial palsy	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11		2
HP:0010628	HP:0010628	Facial palsy	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0010628	HP:0010628	Facial palsy	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0010628	HP:0010628	Facial palsy	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0010628	HP:0001349	Facial diplegia	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional	191
HP:0010628	HP:0001349	Facial diplegia	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0010628	HP:0001349	Facial diplegia	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0010628	HP:0001349	Facial diplegia	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	96
HP:0010628	HP:0001349	Facial diplegia	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0010628	HP:0001349	Facial diplegia	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0010628	HP:0001349	Facial diplegia	1	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8	.	2
HP:0010628	HP:0001349	Facial diplegia	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0010628	HP:0004661	Frontalis muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	127
HP:0010628	HP:0001349	Facial diplegia	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0010628	HP:0001349	Facial diplegia	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0010628	HP:0004661	Frontalis muscle weakness	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	65
HP:0010628	HP:0001349	Facial diplegia	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.	9
HP:0010628	HP:0001349	Facial diplegia	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0010628	HP:0004661	Frontalis muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	6
HP:0010628	HP:0001349	Facial diplegia	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0010628	HP:0001349	Facial diplegia	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0010628	HP:0001349	Facial diplegia	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040283 - Occasional	46
HP:0010628	HP:0001349	Facial diplegia	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0010628	HP:0001349	Facial diplegia	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0010628	HP:0001349	Facial diplegia	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0010628	HP:0001349	Facial diplegia	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0010628	HP:0012799	Unilateral facial palsy	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0010628	HP:0001349	Facial diplegia	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0010628	HP:0001349	Facial diplegia	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0010628	HP:0001349	Facial diplegia	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0010628	HP:0001349	Facial diplegia	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	13
HP:0010628	HP:0001349	Facial diplegia	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0010628	HP:0001349	Facial diplegia	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0010628	HP:0001349	Facial diplegia	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0010628	HP:0001349	Facial diplegia	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0010628	HP:0001349	Facial diplegia	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.	134
HP:0010628	HP:0001349	Facial diplegia	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0010628	HP:0001349	Facial diplegia	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0010628	HP:0004661	Frontalis muscle weakness	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0010628	HP:0001349	Facial diplegia	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0010628	HP:0001349	Facial diplegia	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0010628	HP:0001349	Facial diplegia	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	745
HP:0010628	HP:0001349	Facial diplegia	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0010628	HP:0001349	Facial diplegia	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0010628	HP:0001349	Facial diplegia	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0010628	HP:0430025	Bilateral facial palsy	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0010628	HP:0001349	Facial diplegia	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0010628	HP:0001349	Facial diplegia	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0010628	HP:0001349	Facial diplegia	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0010628	HP:0001349	Facial diplegia	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0010628	HP:0001349	Facial diplegia	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0010628	HP:0001349	Facial diplegia	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0010628	HP:0001349	Facial diplegia	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0010628	HP:0001349	Facial diplegia	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0010628	HP:0001349	Facial diplegia	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0010628	HP:0004661	Frontalis muscle weakness	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0010628	HP:0004661	Frontalis muscle weakness	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	28
HP:0010628	HP:0001349	Facial diplegia	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0010628	HP:0001349	Facial diplegia	1	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.	51
HP:0010628	HP:0004661	Frontalis muscle weakness	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	9
HP:0010628	HP:0004661	Frontalis muscle weakness	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0010628	HP:0001349	Facial diplegia	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0010628	HP:0001349	Facial diplegia	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0010628	HP:0001349	Facial diplegia	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0010628	HP:0001349	Facial diplegia	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0010628	HP:0012799	Unilateral facial palsy	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0010628	HP:0430025	Bilateral facial palsy	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0010628	HP:0004661	Frontalis muscle weakness	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	4
HP:0010628	HP:0001349	Facial diplegia	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0010628	HP:0001349	Facial diplegia	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0010628	HP:0001349	Facial diplegia	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0010628	HP:0001349	Facial diplegia	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0010628	HP:0001349	Facial diplegia	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0010628	HP:0001349	Facial diplegia	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	108
HP:0010628	HP:0001349	Facial diplegia	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0010628	HP:0001349	Facial diplegia	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0010628	HP:0001349	Facial diplegia	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0010628	HP:0004661	Frontalis muscle weakness	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0010628	HP:0001349	Facial diplegia	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional	63
HP:0010628	HP:0012799	Unilateral facial palsy	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0010628	HP:0001349	Facial diplegia	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.	2
HP:0010628	HP:0001349	Facial diplegia	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0010628	HP:0007188	Congenital facial diplegia	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0010628	HP:0007188	Congenital facial diplegia	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis

Genes (189) :ABCA1 ACADS ACTA1 ADA2 ADCY6 ADGRG1 ADSS1 AGRN AK9 AKT1 ALG14 ALG2 AMER1 ANKH ANO5 ASAH1 BAG3 BAP1 BICRA BIN1 BMS1 BTNL2 CAPN3 CFL2 CHAT CHCHD10 CHD7 CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN7 CNTNAP1 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COLQ CRLF1 CRPPA CRYAB DCTN1 DES DLL4 DMPK DNA2 DNAJB6 DNM2 DOK7 DPAGT1 EYA1 FKRP FKTN FRG1 GAN GFPT1 GJA1 GJC2 GLE1 GMPPB GNE GSN HK1 HLA-DRB1 HOXB1 ITGB4 KBTBD13 KIF1B KLHL40 KLHL41 KY LAMA2 LAMB2 LARGE1 LMOD3 LRP12 LRP4 LRP5 MEGF10 MGME1 MPZ MTM1 MTMR14 MTMR2 MTRFR MUSK MYH7 MYL2 MYMK MYMX MYO9A MYPN NARS2 NEB NEFL NF2 NOD2 OSTM1 PABPN1 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIK3CA PLEC PLXND1 POLG POLG2 POMT1 POMT2 PTDSS1 PTRH2 PUF60 RAPSN REV3L RRM2B RYR1 SALL4 SCN4A SCO2 SELENON SEMA3E SGCD SH3TC2 SHMT2 SIX1 SIX5 SLC12A6 SLC18A3 SLC19A3 SLC25A1 SLC25A4 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SMARCB1 SMARCE1 SMCHD1 SMO SNAP25 SNX10 SOST SPEG SPTBN4 SQSTM1 SRPX2 SUCLA2 SUFU SUPT16H SYNE1 SYT2 TCIRG1 TERT TFAP2A TGFB1 TK2 TOR1A TPM2 TPM3 TRAF7 TRIM32 TRPV4 TTN TUBB3 TUBB6 TWNK UBA1 UBA2 VAMP1 VCP XRCC2 YME1L1 ZC4H2 ZFHX4

Diseases (174) :ORPHA:31150 OMIM:205400 OMIM:201470 ORPHA:171439 ORPHA:171433 OMIM:255310 OMIM:616852 OMIM:161800 ORPHA:171430 ORPHA:171436 ORPHA:97240 OMIM:182410 OMIM:616287 ORPHA:98889 OMIM:617030 ORPHA:98913 ORPHA:98914 ORPHA:2495 ORPHA:353327 OMIM:300373 ORPHA:2780 ORPHA:1522 OMIM:123000 ORPHA:206549 OMIM:611307 OMIM:159950 OMIM:612954 OMIM:619325 ORPHA:169186 OMIM:255200 ORPHA:1114 ORPHA:797 OMIM:612387 OMIM:253600 OMIM:616209 ORPHA:138 OMIM:214800 OMIM:602541 OMIM:608930 OMIM:616313 OMIM:616322 OMIM:616323 OMIM:616324 OMIM:608931 ORPHA:53 OMIM:166600 OMIM:611490 OMIM:616286 OMIM:618186 OMIM:616470 OMIM:616720 ORPHA:91411 OMIM:254090 OMIM:255600 ORPHA:98915 OMIM:272430 ORPHA:370980 ORPHA:399058 OMIM:607641 OMIM:601419 OMIM:160900 OMIM:615156 OMIM:603511 OMIM:160150 ORPHA:107 ORPHA:52429 OMIM:113650 ORPHA:370968 OMIM:606612 OMIM:158900 ORPHA:643 OMIM:256850 OMIM:610542 OMIM:218400 OMIM:608804 OMIM:611890 ORPHA:602 ORPHA:85448 OMIM:618547 OMIM:614744 OMIM:118210 OMIM:615348 OMIM:617114 ORPHA:258 OMIM:608840 OMIM:616165 OMIM:164310 ORPHA:3152 OMIM:614305 ORPHA:2790 ORPHA:3416 ORPHA:178377 OMIM:614399 OMIM:615084 OMIM:618184 OMIM:310400 OMIM:601382 ORPHA:254930 OMIM:613559 OMIM:616325 ORPHA:437572 OMIM:160500 OMIM:619424 OMIM:254940 ORPHA:1358 ORPHA:171881 OMIM:617336 OMIM:616239 OMIM:607684 ORPHA:637 ORPHA:90340 OMIM:259720 OMIM:164300 ORPHA:772 ORPHA:254361 ORPHA:570 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 OMIM:610131 OMIM:613155 OMIM:613156 ORPHA:2658 ORPHA:456312 ORPHA:508498 ORPHA:98905 OMIM:255320 ORPHA:178145 OMIM:607323 ORPHA:521411 OMIM:602771 ORPHA:219 OMIM:601596 OMIM:619121 OMIM:218000 OMIM:617239 OMIM:607483 OMIM:609283 OMIM:144755 OMIM:614707 OMIM:211530 OMIM:211500 OMIM:617143 OMIM:158901 OMIM:615085 OMIM:122860 OMIM:269500 OMIM:615959 OMIM:617519 OMIM:617158 OMIM:612073 OMIM:619480 ORPHA:319332 OMIM:259700 OMIM:113620 ORPHA:1328 OMIM:609560 OMIM:617069 OMIM:128100 OMIM:609285 OMIM:609284 OMIM:254110 OMIM:181405 OMIM:611705 OMIM:600638 OMIM:617732 OMIM:301830 ORPHA:329478 OMIM:167320 OMIM:617247 OMIM:617302 OMIM:314580 OMIM:301041

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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