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 muscle size (HP:0030236)

Parent Node:
Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)

..Starting node
..Aplasia of the musculature (HP:0100854)

Term ID:

100854

Name:

Aplasia of the musculature

Synonym:

Absent musculature

Definition:

Absence of the musculature.

Comments:

Reference:

HP:0100854

Genes and Diseases:

Child Nodes:

........

Amyoplasia (HP:0003634)

........

Aplasia of the pectoralis major muscle (HP:0009751)

........

Biceps aplasia (HP:0009783)

........

Triceps aplasia (HP:0009785)

........

Quadriceps aplasia (HP:0009788)

Sister Nodes:

Aplasia/Hypoplasia involving the musculature of the extremities (HP:0009128)

Hypoplasia of the musculature (HP:0009004)

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:0100854	HP:0100854	Aplasia of the musculature	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type		74
HP:0100854	HP:0100854	Aplasia of the musculature	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type		88
HP:0100854	HP:0100854	Aplasia of the musculature	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type		68
HP:0100854	HP:0100854	Aplasia of the musculature	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0100854	HP:0100854	Aplasia of the musculature	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0100854	HP:0100854	Aplasia of the musculature	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0100854	HP:0100854	Aplasia of the musculature	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0100854	HP:0100854	Aplasia of the musculature	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0100854	HP:0100854	Aplasia of the musculature	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0100854	HP:0100854	Aplasia of the musculature	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0100854	HP:0100854	Aplasia of the musculature	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0100854	HP:0003634	Amyoplasia	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0100854	HP:0003634	Amyoplasia	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0100854	HP:0003634	Amyoplasia	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0100854	HP:0009788	Quadriceps aplasia	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0100854	HP:0009785	Triceps aplasia	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0100854	HP:0009783	Biceps aplasia	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0100854	HP:0009751	Aplasia of the pectoralis major muscle	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0100854	HP:0009751	Aplasia of the pectoralis major muscle	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0100854	HP:0009751	Aplasia of the pectoralis major muscle	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent
HP:0100854	HP:0009751	Aplasia of the pectoralis major muscle	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent	3
HP:0100854	HP:0009751	Aplasia of the pectoralis major muscle	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0100854	HP:0009751	Aplasia of the pectoralis major muscle	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0100854	HP:0003634	Amyoplasia	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214

Genes (11) :CHRNA1 CHRND CHRNG LMX1B MYMK MYMX PLXND1 REV3L TBX3 TBX5 TRPV4

Diseases (7) :OMIM:253290 OMIM:161200 ORPHA:1358 ORPHA:570 ORPHA:3138 OMIM:142900 OMIM:181405

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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