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 upper limb joint (HP:0009810)

Grandparent Node:
Synostosis of joints (HP:0100240)

Parent Node:
Abnormal scapula morphology (HP:0000782)

Parent Node:
Abnormal shoulder morphology (HP:0003043)

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

Parent Node:
Limitation of joint mobility (HP:0001376)

Parent Node:
Synostosis involving bones of the upper limbs (HP:0100238)

..Starting node
..Scapulohumeral synostosis (HP:0006595)

Term ID:

6595

Name:

Scapulohumeral synostosis

Synonym:

Fusion of shoulder blade to long bone in upper arm; Humero-scapulo synostosis; Humeroscapular synostosis; Synostosis of shoulder joint

Definition:

Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.

Comments:

Reference:

HP:0006595

Genes and Diseases:

Child Nodes:

Sister Nodes:

Radioulnar synostosis (HP:0002974)

Synostosis involving bones of the hand (HP:0004278)

Synostosis involving the elbow (HP:0003938)

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:0006595	HP:0006595	Scapulohumeral synostosis	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3

Genes (1) :GSC

Diseases (1) :OMIM:602471

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