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 hand (HP:0001421)

Parent Node:
Abnormality of the thenar eminence (HP:0001227)

..Starting node
..Small thenar eminence (HP:0001245)

Term ID:

1245

Name:

Small thenar eminence

Synonym:

Decreased thenar eminence; Hypoplastic thenar eminences; Thenar hypoplasia; Thenar muscle hypoplasia

Definition:

Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.

Comments:

Reference:

HP:0001245

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:0001245	HP:0001245	Small thenar eminence	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0001245	HP:0001245	Small thenar eminence	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0001245	HP:0001245	Small thenar eminence	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001245	HP:0001245	Small thenar eminence	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0001245	HP:0001245	Small thenar eminence	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0001245	HP:0001245	Small thenar eminence	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0001245	HP:0001245	Small thenar eminence	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0001245	HP:0001245	Small thenar eminence	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0001245	HP:0001245	Small thenar eminence	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0001245	HP:0001245	Small thenar eminence	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0001245	HP:0001245	Small thenar eminence	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001245	HP:0001245	Small thenar eminence	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123

Genes (11) :EIF4A3 EMILIN1 FBXW11 FGD4 FGF10 FGFR2 FGFR3 HOXA13 RAD51C SALL4 TBX5

Diseases (10) :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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