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 long bone morphology (HP:0011314)

Grandparent Node:
Abnormality of the humerus (HP:0003063)

Grandparent Node:
obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)

Parent Node:
Abnormal humerus morphology (HP:0031095)

..Starting node
..Abnormal humeral head morphology (HP:0003887)

Term ID:

3887

Name:

Abnormal humeral head morphology

Synonym:

Abnormal head of long bone in upper arm; Abnormality of the humeral heads

Definition:

Comments:

Reference:

HP:0003887

Genes and Diseases:

Child Nodes:

........

Flattened humeral heads (HP:0003888)

........

Varus deformity of humeral neck (HP:0006362)

Sister Nodes:

Abnormal humeral diaphysis morphology (HP:0003926)

Abnormal morphology of the cortex of the humerus (HP:0010629)

Angulated humerus (HP:0003863)

Bifid humerus (HP:0003864)

Bowed humerus (HP:0003865)

Coarse humeral trabeculae (HP:0003866)

Crumpled humerus (HP:0003870)

Deformed humerus (HP:0003871)

Humeral exostoses (HP:0003872)

Humeral lytic defects (HP:0003875)

Humeral pseudarthrosis (HP:0003879)

Humerus varus (HP:0003874)

Lateral humeral condyle aplasia (HP:0006441)

Oval transradiancy of humerus (HP:0003877)

Slender humerus (HP:0003882)

Tapered humerus (HP:0003883)

Undermodeled humerus (HP:0003885)

Wide humerus (HP:0003886)

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:0003887	HP:0003887	Abnormal humeral head morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0003887	HP:0003887	Abnormal humeral head morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0003887	HP:0003888	Flattened humeral heads	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0003887	HP:0006362	Varus deformity of humeral neck	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240

Genes (2) :COL2A1 GNPTAB

Diseases (2) :ORPHA:166011 OMIM:252500

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