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 form of the vertebral bodies (HP:0003312)

Parent Node:
Platyspondyly (HP:0000926)

..Starting node
..Severe platyspondyly (HP:0004565)

Term ID:

4565

Name:

Severe platyspondyly

Synonym:

platyspondyly, extreme

Definition:

Comments:

Reference:

HP:0004565

Genes and Diseases:

Child Nodes:

........

Wafer-thin platyspondyly (HP:0008452)

Sister Nodes:

Biconcave flattened vertebrae (HP:0003321)

Cervical platyspondyly (HP:0004558)

Flattened moderately deformed vertebrae (HP:0005752)

Lumbar platyspondyly (HP:0005787)

Squared-off platyspondyly (HP:0008418)

Supernumerary vertebral ossification centers (HP:0004598)

Thoracic platyspondyly (HP:0004592)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004565	HP:0004565	Severe platyspondyly	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.		284
HP:0004565	HP:0004565	Severe platyspondyly	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040281 - Very frequent		3
HP:0004565	HP:0004565	Severe platyspondyly	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0004565	HP:0004565	Severe platyspondyly	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0004565	HP:0004565	Severe platyspondyly	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.		18
HP:0004565	HP:0004565	Severe platyspondyly	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0004565	HP:0004565	Severe platyspondyly	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	HP:0011463 - Childhood onset	11
HP:0004565	HP:0008452	Wafer-thin platyspondyly	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284

Genes (6) :COL2A1 EXTL3 FGFR3 INPPL1 PAM16 PCYT1A

Diseases (7) :OMIM:151210 ORPHA:508533 OMIM:100800 OMIM:187600 OMIM:258480 OMIM:613320 OMIM:608940

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