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:
Abnormal joint morphology (HP:0001367)

Grandparent Node:
Regional abnormality of skin (HP:0011356)

Parent Node:
Pterygium (HP:0001059)

..Starting node
..Antecubital pterygium (HP:0009760)

Term ID:

9760

Name:

Antecubital pterygium

Synonym:

Pterygium cubitale; Webbed elbow

Definition:

Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.

Comments:

Reference:

HP:0009760

Genes and Diseases:

Child Nodes:

Sister Nodes:

Axillary pterygium (HP:0001060)

Intercrural pterygium (HP:0009757)

Multiple pterygia (HP:0001040)

Neck pterygia (HP:0009759)

Popliteal pterygium (HP:0009756)

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:0009760	HP:0009760	Antecubital pterygium	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	68
HP:0009760	HP:0009760	Antecubital pterygium	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0009760	HP:0009760	Antecubital pterygium	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0009760	HP:0009760	Antecubital pterygium	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0009760	HP:0009760	Antecubital pterygium	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0009760	HP:0009760	Antecubital pterygium	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	166
HP:0009760	HP:0009760	Antecubital pterygium	0	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166

Genes (4) :CHRNG CHUK LMX1B MYH3

Diseases (6) :ORPHA:2990 OMIM:265000 OMIM:619339 OMIM:161200 ORPHA:2614 OMIM:618469

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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