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

..Starting node
..Palmar hyperlinearity (HP:0033252)

Term ID:

33252

Name:

Palmar hyperlinearity

Synonym:

Definition:

Exaggerated skin markings (dermatoglyphics) on the palms of the hand.

Comments:

Reference:

HP:0033252

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033252	HP:0033252	Palmar hyperlinearity	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	75
HP:0033252	HP:0033252	Palmar hyperlinearity	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	63
HP:0033252	HP:0033252	Palmar hyperlinearity	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3	63
HP:0033252	HP:0033252	Palmar hyperlinearity	0	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9	5
HP:0033252	HP:0033252	Palmar hyperlinearity	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5	54
HP:0033252	HP:0033252	Palmar hyperlinearity	0	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS	63
HP:0033252	HP:0033252	Palmar hyperlinearity	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked	19

Genes (6) :ALOX12B ALOXE3 CERS3 CYP4F22 FLG STS

Diseases (6) :OMIM:242100 OMIM:606545 OMIM:615023 OMIM:604777 OMIM:146700 OMIM:308100

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.