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:
Abnormality of skin morphology (HP:0011121)

Parent Node:
Localized skin lesion (HP:0011355)

..Starting node
..Molluscoid pseudotumors (HP:0000993)

Term ID:

993

Name:

Molluscoid pseudotumors

Synonym:

Molluscoid pseudotumor

Definition:

Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.

Comments:

Reference:

HP:0000993

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal perifollicular morphology (HP:0031285)

Annular cutaneous lesion (HP:0025528)

Aplasia/Hypoplasia of the skin (HP:0008065)

Atypical scarring of skin (HP:0000987)

Cafe-au-lait spot (HP:0000957)

Capillary malformation (HP:0025104)

Comedo (HP:0025249)

Cutaneous cyst (HP:0025245)

Hypopigmented skin patches (HP:0001053)

Lichenoid skin lesion (HP:0031452)

Macule (HP:0012733)

Milia (HP:0001056)

Nevus (HP:0003764)

Papule (HP:0200034)

Serpiginous cutaneous lesion (HP:0025527)

Skin dimple (HP:0010781)

Skin erosion (HP:0200041)

Skin fissure (HP:0031057)

Skin nodule (HP:0200036)

Skin pit (HP:0100276)

Skin plaque (HP:0200035)

Skin tags (HP:0010609)

Skin ulcer (HP:0200042)

Skin vesicle (HP:0200037)

Xanthomatosis (HP:0000991)

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:0000993	HP:0000993	Molluscoid pseudotumors	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0000993	HP:0000993	Molluscoid pseudotumors	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0000993	HP:0000993	Molluscoid pseudotumors	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0000993	HP:0000993	Molluscoid pseudotumors	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000993	HP:0000993	Molluscoid pseudotumors	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0000993	HP:0000993	Molluscoid pseudotumors	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0000993	HP:0000993	Molluscoid pseudotumors	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0000993	HP:0000993	Molluscoid pseudotumors	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397

Genes (6) :COL1A1 COL3A1 COL5A1 COL5A2 PLOD1 ZNF469

Diseases (6) :ORPHA:287 OMIM:130050 OMIM:130000 OMIM:130010 OMIM:225400 OMIM:229200

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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