Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormality of the tongue (HP:0000157)

Parent Node:
Abnormal tongue morphology (HP:0030809)

..Starting node
..Tongue atrophy (HP:0012473)

Term ID:

12473

Name:

Tongue atrophy

Synonym:

Atrophy of the tongue; Lingual atrophy; Lingual wasting; Wasting of the tongue

Definition:

Wasting of the tongue.

Comments:

Reference:

HP:0012473

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hyoglossus muscle morphology (HP:3000051)

Abnormal lingual artery morphology (HP:3000074)

Abnormality of lingual tonsil (HP:3000076)

Abnormality of the tongue muscle (HP:0040173)

Ankyloglossia (HP:0010296)

Aplasia/Hypoplasia of the tongue (HP:0010295)

Bifid tongue (HP:0010297)

Duplicated tongue (HP:0040294)

Furrowed tongue (HP:0000221)

Geographic tongue (HP:0025252)

Glossitis (HP:0000206)

Glossoptosis (HP:0000162)

Lobulated tongue (HP:0000180)

Macroglossia (HP:0000158)

Posteriorly placed tongue (HP:0009087)

Protruding tongue (HP:0010808)

Smooth tongue (HP:0010298)

Stiff tongue (HP:0031373)

Strawberry tongue (HP:0031042)

Tongue nodules (HP:0000199)

Tongue telangiectasia (HP:0000227)

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:0012473	HP:0012473	Tongue atrophy	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0012473	HP:0012473	Tongue atrophy	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0012473	HP:0012473	Tongue atrophy	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0012473	HP:0012473	Tongue atrophy	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0012473	HP:0012473	Tongue atrophy	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53
HP:0012473	HP:0012473	Tongue atrophy	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0012473	HP:0012473	Tongue atrophy	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0012473	HP:0012473	Tongue atrophy	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0012473	HP:0012473	Tongue atrophy	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0012473	HP:0012473	Tongue atrophy	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0012473	HP:0012473	Tongue atrophy	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040282 - Frequent	9
HP:0012473	HP:0012473	Tongue atrophy	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0012473	HP:0012473	Tongue atrophy	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040284 - Very rare	55
HP:0012473	HP:0012473	Tongue atrophy	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0012473	HP:0012473	Tongue atrophy	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0012473	HP:0012473	Tongue atrophy	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0012473	HP:0012473	Tongue atrophy	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51

Genes (14) :DOK7 ECEL1 EXOSC3 FRG1 GSN KY MORC2 NEFL NOP56 OPTN PANK2 SBF2 SH3TC2 SLC52A3

Diseases (17) :OMIM:254300 OMIM:615065 OMIM:614678 OMIM:158900 ORPHA:85448 ORPHA:496689 OMIM:617114 ORPHA:466768 ORPHA:101085 OMIM:614153 ORPHA:276198 OMIM:613435 ORPHA:216873 ORPHA:99956 ORPHA:99949 OMIM:601596 OMIM:211530

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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