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 bone mineral density (HP:0004348)

Parent Node:
Abnormal cortical bone morphology (HP:0003103)

Parent Node:
Increased bone mineral density (HP:0011001)

..Starting node
..Cortical sclerosis (HP:0005652)

Term ID:

5652

Name:

Cortical sclerosis

Synonym:

Definition:

Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.

Comments:

Reference:

HP:0005652

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bone-in-a-bone appearance of carpal bones (HP:0004234)

Clavicular sclerosis (HP:0100923)

Craniofacial osteosclerosis (HP:0005464)

Generalized osteosclerosis (HP:0005789)

Increased bone density with cystic changes (HP:0005700)

Increased density of long bones (HP:0006392)

Increased skull ossification (HP:0004330)

Ivory epiphyses of the metacarpals (HP:0009191)

Metacarpal diaphyseal endosteal sclerosis (HP:0006174)

Osteopetrosis (HP:0011002)

Osteopoikilosis (HP:0010739)

Patchy osteosclerosis (HP:0005686)

Sclerosis of foot bone (HP:0100925)

Sclerosis of hand bone (HP:0004054)

Sclerosis of skull base (HP:0002694)

Sclerotic scapulae (HP:0001474)

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:0005652	HP:0005652	Cortical sclerosis	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	102
HP:0005652	HP:0005652	Cortical sclerosis	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	2
HP:0005652	HP:0005652	Cortical sclerosis	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0005652	HP:0005652	Cortical sclerosis	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	82

Genes (4) :CLCN7 PLEKHM1 SOST TCIRG1

Diseases (2) :ORPHA:210110 OMIM:122860

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