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 thoracic spine morphology (HP:0100711)

Grandparent Node:
Kyphosis (HP:0002808)

Parent Node:
Abnormal lumbar spine morphology (HP:0100712)

Parent Node:
Thoracic kyphosis (HP:0002942)

..Starting node
..Thoracolumbar kyphosis (HP:0005619)

Term ID:

5619

Name:

Thoracolumbar kyphosis

Synonym:

Thoracolumbar gibbus; Thoracolumbar gibbus deformity

Definition:

Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.

Comments:

Reference:

HP:0005619

Genes and Diseases:

Child Nodes:

........

Thoracolumbar kyphoscoliosis (HP:0003423)

Sister Nodes:

Lower thoracic kyphosis (HP:0004633)

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:0005619	HP:0005619	Thoracolumbar kyphosis	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040281 - Very frequent	145
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional	14
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome		51
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0005619	HP:0005619	Thoracolumbar kyphosis	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0005619	HP:0003423	Thoracolumbar kyphoscoliosis	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0005619	HP:0003423	Thoracolumbar kyphoscoliosis	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent	2
HP:0005619	HP:0003423	Thoracolumbar kyphoscoliosis	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0005619	HP:0003423	Thoracolumbar kyphoscoliosis	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent	51
HP:0005619	HP:0003423	Thoracolumbar kyphoscoliosis	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0005619	HP:0003423	Thoracolumbar kyphoscoliosis	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0005619	HP:0003423	Thoracolumbar kyphoscoliosis	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0005619	HP:0003423	Thoracolumbar kyphoscoliosis	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166

Genes (22) :AMER1 CCN6 CDH11 COL2A1 EXTL3 FBXO28 FGFR3 FLNB GBA1 GLB1 GNPTAB GUSB KIF22 LBR LHX3 MAN2B1 MED12L MGAT2 NEPRO NPR2 POP1 SLC26A2

Diseases (23) :OMIM:300373 ORPHA:1159 ORPHA:1299 OMIM:151210 OMIM:617425 ORPHA:508533 OMIM:619777 ORPHA:15 ORPHA:56305 ORPHA:2072 OMIM:230600 OMIM:252500 OMIM:253220 ORPHA:93360 OMIM:618019 ORPHA:231720 OMIM:248500 OMIM:618872 OMIM:212066 OMIM:618853 OMIM:602875 OMIM:617396 ORPHA:56304

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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