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:
Action tremor (HP:0002345)

Parent Node:
Kinetic tremor (HP:0030186)

..Starting node
..Intention tremor (HP:0002080)

Term ID:

2080

Name:

Intention tremor

Synonym:

Cerebellar tremor; Terminal tremor

Definition:

A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).

Comments:

Reference:

HP:0002080

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0002080	HP:0002080	Intention tremor	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0002080	HP:0002080	Intention tremor	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0002080	HP:0002080	Intention tremor	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002080	HP:0002080	Intention tremor	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0002080	HP:0002080	Intention tremor	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0002080	HP:0002080	Intention tremor	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040283 - Occasional	64
HP:0002080	HP:0002080	Intention tremor	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	HP:0040283 - Occasional	64
HP:0002080	HP:0002080	Intention tremor	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0002080	HP:0002080	Intention tremor	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	253
HP:0002080	HP:0002080	Intention tremor	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type	.	72
HP:0002080	HP:0002080	Intention tremor	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type	HP:0040282 - Frequent	72
HP:0002080	HP:0002080	Intention tremor	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002080	HP:0002080	Intention tremor	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0002080	HP:0002080	Intention tremor	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent	19
HP:0002080	HP:0002080	Intention tremor	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent	9
HP:0002080	HP:0002080	Intention tremor	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040281 - Very frequent	449
HP:0002080	HP:0002080	Intention tremor	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0002080	HP:0002080	Intention tremor	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare	34
HP:0002080	HP:0002080	Intention tremor	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002080	HP:0002080	Intention tremor	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0002080	HP:0002080	Intention tremor	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0002080	HP:0002080	Intention tremor	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent	51
HP:0002080	HP:0002080	Intention tremor	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0002080	HP:0002080	Intention tremor	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0002080	HP:0002080	Intention tremor	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0002080	HP:0002080	Intention tremor	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	HP:0040283 - Occasional	62
HP:0002080	HP:0002080	Intention tremor	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0002080	HP:0002080	Intention tremor	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002080	HP:0002080	Intention tremor	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002080	HP:0002080	Intention tremor	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0002080	HP:0002080	Intention tremor	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0002080	HP:0002080	Intention tremor	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent	36
HP:0002080	HP:0002080	Intention tremor	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0002080	HP:0002080	Intention tremor	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0002080	HP:0002080	Intention tremor	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent	30
HP:0002080	HP:0002080	Intention tremor	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0002080	HP:0002080	Intention tremor	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0002080	HP:0002080	Intention tremor	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0002080	HP:0002080	Intention tremor	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0002080	HP:0002080	Intention tremor	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0002080	HP:0002080	Intention tremor	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002080	HP:0002080	Intention tremor	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002080	HP:0002080	Intention tremor	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0002080	HP:0002080	Intention tremor	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0002080	HP:0002080	Intention tremor	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish	.	3
HP:0002080	HP:0002080	Intention tremor	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.	177
HP:0002080	HP:0002080	Intention tremor	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent	177
HP:0002080	HP:0002080	Intention tremor	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0002080	HP:0002080	Intention tremor	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002080	HP:0002080	Intention tremor	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002080	HP:0002080	Intention tremor	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040283 - Occasional	38
HP:0002080	HP:0002080	Intention tremor	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002080	HP:0002080	Intention tremor	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0002080	HP:0002080	Intention tremor	0	LMAN2L CL E G H	81562	19263	OMIM:617863			1
HP:0002080	HP:0002080	Intention tremor	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0002080	HP:0002080	Intention tremor	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002080	HP:0002080	Intention tremor	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0002080	HP:0002080	Intention tremor	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0002080	HP:0002080	Intention tremor	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0002080	HP:0002080	Intention tremor	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0002080	HP:0002080	Intention tremor	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare	9
HP:0002080	HP:0002080	Intention tremor	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0002080	HP:0002080	Intention tremor	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	HP:0040283 - Occasional	75
HP:0002080	HP:0002080	Intention tremor	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0002080	HP:0002080	Intention tremor	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0002080	HP:0002080	Intention tremor	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002080	HP:0002080	Intention tremor	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0002080	HP:0002080	Intention tremor	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002080	HP:0002080	Intention tremor	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002080	HP:0002080	Intention tremor	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome	.	103
HP:0002080	HP:0002080	Intention tremor	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0002080	HP:0002080	Intention tremor	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0002080	HP:0002080	Intention tremor	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002080	HP:0002080	Intention tremor	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.	67
HP:0002080	HP:0002080	Intention tremor	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002080	HP:0002080	Intention tremor	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0002080	HP:0002080	Intention tremor	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040283 - Occasional	5
HP:0002080	HP:0002080	Intention tremor	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent	133
HP:0002080	HP:0002080	Intention tremor	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0002080	HP:0002080	Intention tremor	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0002080	HP:0002080	Intention tremor	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	81
HP:0002080	HP:0002080	Intention tremor	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0002080	HP:0002080	Intention tremor	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0002080	HP:0002080	Intention tremor	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0002080	HP:0002080	Intention tremor	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0002080	HP:0002080	Intention tremor	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0002080	HP:0002080	Intention tremor	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002080	HP:0002080	Intention tremor	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0002080	HP:0002080	Intention tremor	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040283 - Occasional	309
HP:0002080	HP:0002080	Intention tremor	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0002080	HP:0002080	Intention tremor	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent	77
HP:0002080	HP:0002080	Intention tremor	0	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy	.	4
HP:0002080	HP:0002080	Intention tremor	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent	5
HP:0002080	HP:0002080	Intention tremor	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002080	HP:0002080	Intention tremor	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0002080	HP:0002080	Intention tremor	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0002080	HP:0002080	Intention tremor	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0002080	HP:0002080	Intention tremor	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002080	HP:0002080	Intention tremor	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040283 - Occasional	126
HP:0002080	HP:0002080	Intention tremor	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0002080	HP:0002080	Intention tremor	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.	126
HP:0002080	HP:0002080	Intention tremor	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002080	HP:0002080	Intention tremor	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0002080	HP:0002080	Intention tremor	0	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14		17
HP:0002080	HP:0002080	Intention tremor	0	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5		5
HP:0002080	HP:0002080	Intention tremor	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.	58
HP:0002080	HP:0002080	Intention tremor	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040282 - Frequent	58
HP:0002080	HP:0002080	Intention tremor	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0002080	HP:0002080	Intention tremor	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0002080	HP:0002080	Intention tremor	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0002080	HP:0002080	Intention tremor	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002080	HP:0002080	Intention tremor	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0002080	HP:0002080	Intention tremor	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0002080	HP:0002080	Intention tremor	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	HP:0040283 - Occasional	21
HP:0002080	HP:0002080	Intention tremor	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0002080	HP:0002080	Intention tremor	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0002080	HP:0002080	Intention tremor	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1

Genes (99) :ABCB7 ABHD12 ADPRS AKT1 AMACR ANO10 ARSA ATCAY ATM ATP2B3 ATXN10 CACNA1A CACNA1C CAMTA1 CARS1 CCDC88C CSTB CTDP1 CWF19L1 ELOVL4 EPRS1 ERCC2 ERCC3 ERCC6 ERCC8 FARS2 FBXO7 FMR1 FXN GJB1 GJC2 GSS GTF2E2 GTF2H5 HSD17B4 HYCC1 ITM2B ITPR1 KCNJ10 KCNK4 KCNN2 KIF1C KNSTRN LEMD2 LMAN2L LMNB1 MPLKIP MRE11 NFASC NKX2-1 NONO NOP56 OPHN1 PEX10 PI4KA PIK3CA PIK3CD PLA2G6 PLP1 PMM2 PNPLA6 POLG POLR3A POLR3B POU4F1 PPP2R2B PRICKLE1 PSAP PTEN QRICH1 RARS1 RFC1 RNF113A RNU12 SACS SCARB2 SCP2 SCYL1 SEMA6B SLC25A46 SMG9 SNCA SPTBN1 SPTBN2 TARS1 TBP TECR TENM4 TGM6 TMCO1 TMEM106B TMEM240 TMEM63A TMEM70 TPK1 UCHL1 UFC1 VLDLR VWA3B

Diseases (102) :OMIM:301310 OMIM:612674 OMIM:618170 OMIM:615109 OMIM:614307 ORPHA:284289 OMIM:613728 ORPHA:309271 ORPHA:309263 OMIM:601238 ORPHA:94122 OMIM:208900 OMIM:302500 ORPHA:314978 ORPHA:98761 ORPHA:98758 OMIM:620029 ORPHA:314647 ORPHA:33364 OMIM:616053 ORPHA:423275 ORPHA:308 ORPHA:48431 ORPHA:453521 OMIM:616127 OMIM:133190 OMIM:617951 ORPHA:90324 ORPHA:466722 ORPHA:171695 OMIM:300623 ORPHA:93256 ORPHA:95 ORPHA:1175 OMIM:608804 OMIM:613206 OMIM:266130 OMIM:233400 OMIM:610532 OMIM:117300 OMIM:117360 ORPHA:208513 OMIM:612780 OMIM:618381 OMIM:619725 ORPHA:397946 ORPHA:221139 OMIM:619322 OMIM:617863 ORPHA:99027 ORPHA:251347 OMIM:618356 ORPHA:209905 ORPHA:466791 ORPHA:276198 ORPHA:137831 OMIM:614871 OMIM:619708 OMIM:615108 OMIM:610217 OMIM:312080 OMIM:212065 OMIM:215470 OMIM:258450 ORPHA:447896 OMIM:264090 OMIM:614381 OMIM:619352 ORPHA:98762 OMIM:610539 OMIM:158350 OMIM:617982 OMIM:616140 ORPHA:438114 ORPHA:504476 ORPHA:512260 ORPHA:98 OMIM:254900 OMIM:613724 ORPHA:466794 OMIM:618876 OMIM:616505 OMIM:619995 OMIM:619475 ORPHA:352403 OMIM:600224 OMIM:615386 OMIM:607136 OMIM:614020 OMIM:616736 OMIM:613908 ORPHA:276193 OMIM:213980 OMIM:617964 OMIM:607454 OMIM:618688 OMIM:614052 OMIM:614458 OMIM:615491 OMIM:618076 OMIM:224050 OMIM:616948

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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