Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 appendicular skeleton morphology (HP:0011844)

Grandparent Node:
Abnormality of limb bone (HP:0040068)

Parent Node:
Abnormality of limb bone morphology (HP:0002813)

..Starting node
..Acromicria (HP:0031878)

Term ID:

31878

Name:

Acromicria

Synonym:

Definition:

Small hands and feet in proportion to the rest of the body.

Comments:

Reference:

HP:0031878

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal digit morphology (HP:0011297)

Abnormal limb epiphysis morphology (HP:0006505)

Abnormal metaphysis morphology (HP:0000944)

Abnormal radial ray morphology (HP:0410049)

Absent ray (HP:0030030)

Aplasia/hypoplasia involving bones of the extremities (HP:0045060)

Ectrodactyly (HP:0100257)

Limb duplication (HP:0100524)

obsolete Abnormal morphology of bones of the lower limbs (HP:0040066)

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

obsolete Anomaly of the limb diaphyses morphology (HP:0006504)

Subperiosteal bone resorption (HP:0003106)

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:0031878	HP:0031878	Acromicria	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0031878	HP:0031878	Acromicria	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0031878	HP:0031878	Acromicria	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0031878	HP:0031878	Acromicria	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0031878	HP:0031878	Acromicria	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0031878	HP:0031878	Acromicria	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0031878	HP:0031878	Acromicria	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0031878	HP:0031878	Acromicria	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0031878	HP:0031878	Acromicria	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0031878	HP:0031878	Acromicria	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0031878	HP:0031878	Acromicria	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0031878	HP:0031878	Acromicria	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0031878	HP:0031878	Acromicria	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0031878	HP:0031878	Acromicria	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome

Genes (14) :DLK1 HERC2 IPW MAGEL2 MEG3 MKRN3 MKRN3-AS1 NPAP1 PWAR1 PWRN1 RTL1 SLC26A2 SNORD115-1 SNORD116-1

Diseases (3) :ORPHA:254525 OMIM:176270 ORPHA:93307

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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