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 hand (HP:0001155)

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

Parent Node:
Abnormality of the musculature of the hand (HP:0001421)

..Starting node
..Abnormality of the thenar eminence (HP:0001227)

Term ID:

1227

Name:

Abnormality of the thenar eminence

Synonym:

Thenar abnormality

Definition:

An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.

Comments:

Reference:

HP:0001227

Genes and Diseases:

Child Nodes:

........

Small thenar eminence (HP:0001245)

Sister Nodes:

Abnormality of the hypothenar eminence (HP:0010486)

Hand muscle atrophy (HP:0009130)

Hand muscle weakness (HP:0030237)

Hypotrophy of the small hand muscles (HP:0006006)

Weakness of the intrinsic hand muscles (HP:0009005)

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:0001227	HP:0001227	Abnormality of the thenar eminence	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001227	HP:0001227	Abnormality of the thenar eminence	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001227	HP:0001245	Small thenar eminence	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0001227	HP:0001245	Small thenar eminence	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0001227	HP:0001245	Small thenar eminence	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001227	HP:0001245	Small thenar eminence	1	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0001227	HP:0001245	Small thenar eminence	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0001227	HP:0001245	Small thenar eminence	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0001227	HP:0001245	Small thenar eminence	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0001227	HP:0001245	Small thenar eminence	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0001227	HP:0001245	Small thenar eminence	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0001227	HP:0001245	Small thenar eminence	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0001227	HP:0001245	Small thenar eminence	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001227	HP:0001245	Small thenar eminence	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123

Genes (34) :ADA2 EIF4A3 EMILIN1 FBXW11 FGD4 FGF10 FGFR2 FGFR3 GATA1 HOXA13 RAD51C RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SALL4 TBX5 TSR2

Diseases (11) :ORPHA:124 OMIM:268305 OMIM:620080 OMIM:618914 OMIM:609311 OMIM:149730 OMIM:140000 OMIM:613390 OMIM:607323 OMIM:147750 OMIM:142900

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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