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 skeletal muscle morphology (HP:0011805)

Grandparent Node:
Abnormal tendon morphology (HP:0100261)

Grandparent Node:
Abnormality of connective tissue (HP:0003549)

Grandparent Node:
Abnormality of joint mobility (HP:0011729)

Parent Node:
Flexion contracture (HP:0001371)

..Starting node
..Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)

Term ID:

4631

Name:

Decreased cervical spine flexion due to contractures of posterior cervical muscles

Synonym:

Contracture of post-cervical muscles; Inability to touch chin to chest

Definition:

Comments:

Reference:

HP:0004631

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital contracture (HP:0002803)

Contractures of the large joints (HP:0005781)

Flexion contracture of digit (HP:0030044)

Limb joint contracture (HP:0003121)

Multiple joint contractures (HP:0002828)

Neck joint contracture (HP:0005997)

obsolete Joint contractures involving the joints of the feet (HP:0100492)

Progressive flexion contractures (HP:0005876)

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:0004631	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0004631	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0004631	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0004631	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0004631	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0004631	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0004631	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040284 - Very rare	759
HP:0004631	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0004631	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0004631	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171

Genes (7) :EMD FHL1 LMNA PLEC SYNE1 SYNE2 TMEM43

Diseases (6) :OMIM:310300 ORPHA:98863 ORPHA:98853 ORPHA:98855 OMIM:181350 ORPHA:254361

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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