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 muscle fiber protein expression (HP:0030089)

Parent Node:
Abnormal muscle fiber emerin (HP:0030116)

..Starting node
..Absent muscle fiber emerin (HP:0030117)

Term ID:

30117

Name:

Absent muscle fiber emerin

Synonym:

Absent muscle fibre emerin

Definition:

Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.

Comments:

Reference:

HP:0030117

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced muscle fiber emerin (HP:0030118)

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:0030117	HP:0030117	Absent muscle fiber emerin	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0030117	HP:0030117	Absent muscle fiber emerin	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0030117	HP:0030117	Absent muscle fiber emerin	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0030117	HP:0030117	Absent muscle fiber emerin	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0030117	HP:0030117	Absent muscle fiber emerin	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0030117	HP:0030117	Absent muscle fiber emerin	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0030117	HP:0030117	Absent muscle fiber emerin	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171

Genes (6) :EMD FHL1 LMNA SYNE1 SYNE2 TMEM43

Diseases (3) :ORPHA:98863 ORPHA:98853 ORPHA:98855

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