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:
Scoliosis (HP:0002650)

Parent Node:
Thoracolumbar scoliosis (HP:0002944)

..Starting node
..Lumbar scoliosis (HP:0004626)

Term ID:

4626

Name:

Lumbar scoliosis

Synonym:

Definition:

Comments:

Reference:

HP:0004626

Genes and Diseases:

Child Nodes:

........

Lumbar kyphoscoliosis (HP:0004619)

Sister Nodes:

Thoracolumbar kyphoscoliosis (HP:0003423)

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:0004626	HP:0004626	Lumbar scoliosis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0004626	HP:0004626	Lumbar scoliosis	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0004626	HP:0004626	Lumbar scoliosis	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0004626	HP:0004626	Lumbar scoliosis	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0004626	HP:0004626	Lumbar scoliosis	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0004626	HP:0004626	Lumbar scoliosis	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0004626	HP:0004626	Lumbar scoliosis	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0004626	HP:0004626	Lumbar scoliosis	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0004626	HP:0004626	Lumbar scoliosis	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0004626	HP:0004626	Lumbar scoliosis	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0004626	HP:0004626	Lumbar scoliosis	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0004626	HP:0004626	Lumbar scoliosis	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0004626	HP:0004626	Lumbar scoliosis	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.	20
HP:0004626	HP:0004626	Lumbar scoliosis	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0004626	HP:0004626	Lumbar scoliosis	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0004626	HP:0004619	Lumbar kyphoscoliosis	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0004626	HP:0004619	Lumbar kyphoscoliosis	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284

Genes (14) :ALMS1 AP1G1 ASH1L ATG7 ATP6V1B2 COL2A1 GNPTAB HYAL1 IDH1 LONP1 NIN PAPSS2 RPL10 TBC1D24

Diseases (14) :ORPHA:64 OMIM:619548 OMIM:617796 OMIM:619422 ORPHA:79500 OMIM:156550 OMIM:252500 OMIM:601492 ORPHA:99646 OMIM:600373 ORPHA:319675 OMIM:614851 OMIM:612847 OMIM:300998

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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