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:
Skeletal muscle atrophy (HP:0003202)

Parent Node:
Abnormality of the musculature of the upper arm (HP:0001457)

Parent Node:
Proximal amyotrophy (HP:0007126)

..Starting node
..Proximal upper limb amyotrophy (HP:0008948)

Term ID:

8948

Name:

Proximal upper limb amyotrophy

Synonym:

Proximal muscle atrophy in upper limbs; Proximal upper limb muscle atrophy

Definition:

Muscular atrophy affecting proximally located muscles of the arms.

Comments:

Reference:

HP:0008948

Genes and Diseases:

Child Nodes:

Sister Nodes:

Proximal lower limb amyotrophy (HP:0008956)

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:0008948	HP:0008948	Proximal upper limb amyotrophy	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	HP:0040282 - Frequent	223
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0008948	HP:0008948	Proximal upper limb amyotrophy	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214

Genes (13) :DNM2 EMD FHL1 HNRNPDL LMNA MORC2 MTMR14 SGCD SYNE1 SYNE2 TCAP TMEM43 TRPV4

Diseases (9) :OMIM:160150 ORPHA:98863 OMIM:609115 ORPHA:98853 ORPHA:98855 ORPHA:466768 ORPHA:219 OMIM:601954 OMIM:606071

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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