Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
expand
Localized skin lesion (HP:0011355)help
..Starting node
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Milia (HP:0001056)help
Term ID: 1056
Name: Milia
Synonym: Milk spot; Millium cyst
Definition: Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Comments:
Reference: HP:0001056
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal perifollicular morphology (HP:0031285) help
..expandAnnular cutaneous lesion (HP:0025528) help
..expandAplasia/Hypoplasia of the skin (HP:0008065) help
..expandAtypical scarring of skin (HP:0000987) help
..expandCafe-au-lait spot (HP:0000957) help
..expandCapillary malformation (HP:0025104) help
..expandComedo (HP:0025249) help
..expandCutaneous cyst (HP:0025245) help
..expandHypopigmented skin patches (HP:0001053) help
..expandLichenoid skin lesion (HP:0031452) help
..expandMacule (HP:0012733) help
..expandMolluscoid pseudotumors (HP:0000993) help
..expandNevus (HP:0003764) help
..expandPapule (HP:0200034) help
..expandSerpiginous cutaneous lesion (HP:0025527) help
..expandSkin dimple (HP:0010781) help
..expandSkin erosion (HP:0200041) help
..expandSkin fissure (HP:0031057) help
..expandSkin nodule (HP:0200036) help
..expandSkin pit (HP:0100276) help
..expandSkin plaque (HP:0200035) help
..expandSkin tags (HP:0010609) help
..expandSkin ulcer (HP:0200042) help
..expandSkin vesicle (HP:0200037) help
..expandXanthomatosis (HP:0000991) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001056HP:0001056Milia0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent129
HP:0001056HP:0001056Milia0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040284 - Very rare129
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040282 - Frequent263
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040281 - Very frequent263
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosaHP:0040283 - Occasional263
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214OMIM:131750Epidermolysis bullosa dystrophica, autosomal dominant.263
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214OMIM:604129Epidermolysis bullosa pruriginosa.263
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral formHP:0040282 - Frequent263
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversaHP:0040282 - Frequent263
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosaHP:0040282 - Frequent263
HP:0001056HP:0001056Milia0COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn.263
HP:0001056HP:0001056Milia0CYLD CL E G H15402584OMIM:605041Brooke-Spiegler syndrome.126
HP:0001056HP:0001056Milia0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0001056HP:0001056Milia0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0001056HP:0001056Milia0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0001056HP:0001056Milia0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent124
HP:0001056HP:0001056Milia0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040284 - Very rare124
HP:0001056HP:0001056Milia0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional110
HP:0001056HP:0001056Milia0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0001056HP:0001056Milia0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0001056HP:0001056Milia0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040283 - Occasional110
HP:0001056HP:0001056Milia0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type.110
HP:0001056HP:0001056Milia0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040284 - Very rare110
HP:0001056HP:0001056Milia0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0001056HP:0001056Milia0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional173
HP:0001056HP:0001056Milia0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0001056HP:0001056Milia0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040283 - Occasional173
HP:0001056HP:0001056Milia0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type.173
HP:0001056HP:0001056Milia0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040284 - Very rare173
HP:0001056HP:0001056Milia0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0001056HP:0001056Milia0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0001056HP:0001056Milia0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0001056HP:0001056Milia0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0001056HP:0001056Milia0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0001056HP:0001056Milia0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0001056HP:0001056Milia0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0001056HP:0001056Milia0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040281 - Very frequent6
HP:0001056HP:0001056Milia0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0001056HP:0001056Milia0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.HP:0003593 - Infantile onset201
HP:0001056HP:0001056Milia0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0001056HP:0001056Milia0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0001056HP:0001056Milia0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0001056HP:0001056Milia0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0001056HP:0001056Milia0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0001056HP:0001056Milia0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0001056HP:0001056Milia0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0001056HP:0001056Milia0SMARCAD1 CL E G H5691618398ORPHA:1658Absence of fingerprints-congenital milia syndromeHP:0040281 - Very frequent6
HP:0001056HP:0001056Milia0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0001056HP:0001056Milia0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124


Genes (19) :COL17A1 COL7A1 CYLD FERMT1 ITGB4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LIFR MMP1 OFD1 PLEC PPOX PTCH1 PTCH2 SMARCAD1 SUFU

Diseases (34) :ORPHA:79402 ORPHA:251393 ORPHA:231568 ORPHA:89842 ORPHA:79408 ORPHA:89843 OMIM:131750 OMIM:226600 OMIM:604129 ORPHA:158673 ORPHA:79410 ORPHA:79409 ORPHA:79411 OMIM:131705 OMIM:605041 ORPHA:2908 ORPHA:158684 OMIM:226730 ORPHA:79399 ORPHA:79396 ORPHA:89838 ORPHA:79397 OMIM:131760 ORPHA:79400 ORPHA:69087 OMIM:226700 OMIM:601559 OMIM:311200 ORPHA:2750 OMIM:226670 ORPHA:79473 OMIM:109400 ORPHA:1658 OMIM:129200
 

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