Human Phenotype
Ontology
Grandparent Node: Thickened skin (HP:0001072) Parent Node: Epidermal thickening (HP:0011368) ..Starting node Parakeratosis (HP:0001036)
Term ID: 1036
Name: Parakeratosis
Synonym:
Definition: Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Comments:
Reference: HP:0001036
Genes and Diseases: Child Nodes: ........Hyperparakeratosis (HP:0040009) Sister Nodes: ..Acanthosis nigricans (HP:0000956) ..Acrokeratosis (HP:0200016) ..Generalized keratosis follicularis (HP:0007439) ..Hypergranulosis (HP:0025114) ..Hyperkeratosis (HP:0000962) ..Ichthyosis (HP:0008064) ..Orthokeratosis (HP:0040162) ..Porokeratosis (HP:0200044) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0001036 HP:0001036 Parakeratosis 0 CARD14 CL E G H 79092 16446 OMIM:173200 Pityriasis rubra pilaris 33 HP:0001036 HP:0001036 Parakeratosis 0 CARD14 CL E G H 79092 16446 OMIM:602723 PSORIASIS 2; PSORS2 33 HP:0001036 HP:0001036 Parakeratosis 0 CDSN CL E G H 1041 1802 ORPHA:90368 Hypotrichosis simplex of the scalp 7 HP:0001036 HP:0001036 Parakeratosis 0 CLDN1 CL E G H 9076 2032 OMIM:607626 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis . 11 HP:0001036 HP:0001036 Parakeratosis 0 CYP4F22 CL E G H 126410 26820 OMIM:604777 Ichthyosis, congenital, autosomal recessive 5 . 54 HP:0001036 HP:0001036 Parakeratosis 0 DSP CL E G H 1832 3052 OMIM:615821 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis . 747 HP:0001036 HP:0001036 Parakeratosis 0 ELOVL1 CL E G H 64834 14418 OMIM:618527 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features HP:0001036 HP:0001036 Parakeratosis 0 ERCC6 CL E G H 2074 3438 OMIM:278800 De Sanctis-Cacchione syndrome 199 HP:0001036 HP:0001036 Parakeratosis 0 FLG2 CL E G H 388698 33276 OMIM:618084 Peeling skin syndrome 6 . HP:0001036 HP:0001036 Parakeratosis 0 GLS CL E G H 2744 4331 OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development HP:0001036 HP:0001036 Parakeratosis 0 IL36RN CL E G H 26525 15561 OMIM:614204 PSORIASIS 14, PUSTULAR; PSORS14 51 HP:0001036 HP:0001036 Parakeratosis 0 KRT13 CL E G H 3860 6415 OMIM:615785 White sponge nevus 2 46 HP:0001036 HP:0001036 Parakeratosis 0 KRT5 CL E G H 3852 6442 ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema HP:0040282 - Frequent 173 HP:0001036 HP:0001036 Parakeratosis 0 KRT74 CL E G H 121391 28929 ORPHA:90368 Hypotrichosis simplex of the scalp 5 HP:0001036 HP:0001036 Parakeratosis 0 LDHA CL E G H 3939 6535 ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0040283 - Occasional 35 HP:0001036 HP:0001036 Parakeratosis 0 LORICRIN CL E G H 4014 6663 ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis HP:0001036 HP:0001036 Parakeratosis 0 LORICRIN CL E G H 4014 6663 OMIM:604117 Vohwinkel syndrome, variant form . HP:0001036 HP:0001036 Parakeratosis 0 MBTPS2 CL E G H 51360 15455 OMIM:300918 Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked . 22 HP:0001036 HP:0001036 Parakeratosis 0 MVD CL E G H 4597 7529 OMIM:614714 POROKERATOSIS 7, MULTIPLE TYPES; POROK7 2 HP:0001036 HP:0001036 Parakeratosis 0 MVK CL E G H 4598 7530 OMIM:175900 Porokeratosis 3, multiple types . 150 HP:0001036 HP:0001036 Parakeratosis 0 NIPAL4 CL E G H 348938 28018 OMIM:612281 Ichthyosis, congenital, autosomal recessive 6 . 60 HP:0001036 HP:0001036 Parakeratosis 0 NLRP1 CL E G H 22861 14374 OMIM:615225 Palmoplantar carcinoma, multiple self-healing . 37 HP:0001036 HP:0001036 Parakeratosis 0 NSDHL CL E G H 50814 13398 OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 34 HP:0001036 HP:0001036 Parakeratosis 0 PERP CL E G H 64065 17637 OMIM:619208 OLMSTED SYNDROME 2; OLMS2 HP:0001036 HP:0001036 Parakeratosis 0 PIK3CA CL E G H 5290 8975 ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome 162 HP:0001036 HP:0001036 Parakeratosis 0 PMVK CL E G H 10654 9141 OMIM:175800 Porokeratosis 1, multiple types . 3 HP:0001036 HP:0001036 Parakeratosis 0 POMP CL E G H 51371 20330 OMIM:601952 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma . 2 HP:0001036 HP:0001036 Parakeratosis 0 RHBDF2 CL E G H 79651 20788 OMIM:148500 Tylosis with esophageal cancer . 80 HP:0001036 HP:0001036 Parakeratosis 0 SPINK5 CL E G H 11005 15464 OMIM:256500 Netherton syndrome . 100 HP:0001036 HP:0001036 Parakeratosis 0 TGM1 CL E G H 7051 11777 ORPHA:100976 Bathing suit ichthyosis HP:0040282 - Frequent 98 HP:0001036 HP:0001036 Parakeratosis 0 TGM1 CL E G H 7051 11777 OMIM:242300 Ichthyosis, congenital, autosomal recessive 1 . 98 HP:0001036 HP:0001036 Parakeratosis 0 TRPM4 CL E G H 54795 17993 OMIM:618531 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6 124 HP:0001036 HP:0001036 Parakeratosis 0 TRPV3 CL E G H 162514 18084 OMIM:614594 Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques . 151 HP:0001036 HP:0040009 Hyperparakeratosis 1 KRT13 CL E G H 3860 6415 OMIM:615785 White sponge nevus 2 . 46 HP:0001036 HP:0040009 Hyperparakeratosis 1 PIK3CA CL E G H 5290 8975 ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome HP:0040283 - Occasional 162
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
