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 limbs (HP:0040064)

Parent Node:
Abnormality of the lower limb (HP:0002814)

..Starting node
..Sirenomelia (HP:0010497)

Term ID:

10497

Name:

Sirenomelia

Synonym:

Sympodia

Definition:

A developmental defect in which the legs are fused together.

Comments:

Reference:

HP:0010497

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal foot morphology (HP:0001760)

Abnormal lower limb bone morphology (HP:0040069)

Abnormal lower-limb metaphysis morphology (HP:0006490)

Abnormality of lower limb epiphysis morphology (HP:0006500)

Abnormality of lower limb joint (HP:0100491)

Abnormality of the calf (HP:0002981)

Abnormality of the musculature of the lower limbs (HP:0001437)

Amniotic constriction rings of legs (HP:0010495)

Areflexia of lower limbs (HP:0002522)

Distal lower limb muscle weakness (HP:0009053)

Hypertrophy of the lower limb (HP:0010496)

Hyporeflexia of lower limbs (HP:0002600)

Lower limb asymmetry (HP:0100559)

obsolete Externally rotated/abducted legs (HP:0003783)

Pedal edema (HP:0010741)

Rickets of the lower limbs (HP:0006463)

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:0010497	HP:0010497	Sirenomelia	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0010497	HP:0010497	Sirenomelia	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0010497	HP:0010497	Sirenomelia	0	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040283 - Occasional	2
HP:0010497	HP:0010497	Sirenomelia	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional	2
HP:0010497	HP:0010497	Sirenomelia	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional	1
HP:0010497	HP:0010497	Sirenomelia	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional
HP:0010497	HP:0010497	Sirenomelia	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional	4
HP:0010497	HP:0010497	Sirenomelia	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0010497	HP:0010497	Sirenomelia	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional	572
HP:0010497	HP:0010497	Sirenomelia	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0010497	HP:0010497	Sirenomelia	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional

Genes (11) :AKT1 ATP6V1B2 DACT1 FGF20 GFRA1 GREB1L ITGA8 PTEN RET TBC1D24 WNT9B

Diseases (4) :ORPHA:744 ORPHA:79500 ORPHA:63260 ORPHA:1848

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