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 bone structure (HP:0003330)

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

..Starting node
..Thin bony cortex (HP:0002753)

Term ID:

2753

Name:

Thin bony cortex

Synonym:

Thin cortices

Definition:

Abnormal thinning of the cortical region of bones.

Comments:

Reference:

HP:0002753

Genes and Diseases:

Child Nodes:

........

Humeral cortical thinning (HP:0003869)

........

Cortical thinning of hand bones (HP:0004272)

Sister Nodes:

Abnormal hand cortical bone morphology (HP:0005926)

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

Abnormality of foot cortical bone (HP:0025332)

Cortical irregularity (HP:0005731)

Cortical sclerosis (HP:0005652)

Pseudo-fractures (HP:0100036)

Thickened cortex of bones (HP:0100039)

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:0002753	HP:0002753	Thin bony cortex	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0002753	HP:0002753	Thin bony cortex	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0002753	HP:0002753	Thin bony cortex	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0002753	HP:0002753	Thin bony cortex	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0002753	HP:0002753	Thin bony cortex	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0002753	HP:0002753	Thin bony cortex	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0002753	HP:0002753	Thin bony cortex	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0002753	HP:0002753	Thin bony cortex	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0002753	HP:0002753	Thin bony cortex	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0002753	HP:0002753	Thin bony cortex	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002753	HP:0002753	Thin bony cortex	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0002753	HP:0002753	Thin bony cortex	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0002753	HP:0002753	Thin bony cortex	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0002753	HP:0002753	Thin bony cortex	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0002753	HP:0002753	Thin bony cortex	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0002753	HP:0002753	Thin bony cortex	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0002753	HP:0002753	Thin bony cortex	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002753	HP:0002753	Thin bony cortex	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0002753	HP:0002753	Thin bony cortex	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0002753	HP:0002753	Thin bony cortex	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0002753	HP:0002753	Thin bony cortex	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.	72
HP:0002753	HP:0002753	Thin bony cortex	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0002753	HP:0002753	Thin bony cortex	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0002753	HP:0004272	Cortical thinning of hand bones	1	CL E G H
HP:0002753	HP:0003869	Humeral cortical thinning	1	CL E G H

Genes (20) :ADAMTS10 AKT1 CCDC134 CLCN5 CYP27B1 CYP2R1 FARSB FBN1 GLB1 MMP2 PRKG2 PTH1R SFRP4 SLC34A3 SMS TENT5A TMEM53 TNFRSF11A VDR XYLT2

Diseases (22) :OMIM:277600 OMIM:176920 OMIM:619795 OMIM:300009 OMIM:300554 ORPHA:289157 OMIM:264700 OMIM:600081 OMIM:613658 OMIM:608328 OMIM:230600 OMIM:259600 OMIM:619638 ORPHA:79106 OMIM:265900 OMIM:241530 OMIM:309583 OMIM:617952 OMIM:619727 OMIM:174810 OMIM:277440 OMIM:605822

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

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