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:
Aplasia/Hypoplasia of the ribs (HP:0006712)

Parent Node:
Short ribs (HP:0000773)

..Starting node
..Hypoplasia of first ribs (HP:0006657)

Term ID:

6657

Name:

Hypoplasia of first ribs

Synonym:

Hypoplastic first rib; Hypoplastic first ribs; Small first rib; Underdeveloped first rib

Definition:

Comments:

Reference:

HP:0006657

Genes and Diseases:

Child Nodes:

Sister Nodes:

Twelfth rib hypoplasia (HP:0006668)

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:0006657	HP:0006657	Hypoplasia of first ribs	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0006657	HP:0006657	Hypoplasia of first ribs	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0006657	HP:0006657	Hypoplasia of first ribs	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49

Genes (3) :LMX1B SETBP1 SF3B4

Diseases (3) :OMIM:161200 OMIM:269150 OMIM:154400

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