Human Phenotype Ontology 
Grandparent Node:
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Lacrimation abnormality (HP:0000632)help
Parent Node:
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Decreased lacrimation (HP:0000633)help
..Starting node
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Alacrima (HP:0000522)help
Term ID: 522
Name: Alacrima
Synonym: Absence of tears in the eyes; Absent lacrimal fluids; Absent tear secretion
Definition: Absence of tear secretion.
Comments:
Reference: HP:0000522
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000522HP:0000522Alacrima0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM117413666605378
HP:0000522HP:0000522Alacrima0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM116213666605378
HP:0000522HP:0000522Alacrima0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM124181090113810
HP:0000522HP:0000522Alacrima0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM119031090113810
HP:0000522HP:0000522Alacrima0ELP1 CL E G H85181764ORPHA111815959603722
HP:0000522HP:0000522Alacrima0ELP1 CL E G H85181764ORPHA110545959603722
HP:0000522HP:0000522Alacrima0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM111815959603722
HP:0000522HP:0000522Alacrima0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM110545959603722
HP:0000522HP:0000522Alacrima0FGF10 CL E G H2255149730Levy-Hollister syndrome149730C0265269OMIM1633666602115
HP:0000522HP:0000522Alacrima0FGF10 CL E G H2255149730Levy-Hollister syndrome149730C0265269OMIM1603666602115
HP:0000522HP:0000522Alacrima0FGFR2 CL E G H2263149730Levy-Hollister syndrome149730C0265269OMIM15013689176943
HP:0000522HP:0000522Alacrima0FGFR2 CL E G H2263149730Levy-Hollister syndrome149730C0265269OMIM14663689176943
HP:0000522HP:0000522Alacrima0FGFR3 CL E G H2261149730Levy-Hollister syndrome149730C0265269OMIM15423690134934
HP:0000522HP:0000522Alacrima0FGFR3 CL E G H2261149730Levy-Hollister syndrome149730C0265269OMIM15413690134934
HP:0000522HP:0000522Alacrima0GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM110722923615495
HP:0000522HP:0000522Alacrima0GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM19822923615495
HP:0000522HP:0000522Alacrima0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM148517646610661
HP:0000522HP:0000522Alacrima0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM138117646610661
HP:0000522HP:0000522Alacrima0PAX1 CL E G H5075615560Otofaciocervical syndrome 2615560C3714942OMIM11698615167411
HP:0000522HP:0000522Alacrima0PAX1 CL E G H5075615560Otofaciocervical syndrome 2615560C3714942OMIM1748615167411
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000522HP:0000522Alacrima0SETBP1 CL E G H26040798ORPHA056015573611060
HP:0000522HP:0000522Alacrima0SETBP1 CL E G H26040798ORPHA032815573611060
HP:0000522HP:0000522Alacrima0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM027311190602229
HP:0000522HP:0000522Alacrima0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM024711190602229
HP:0000522HP:0000522Alacrima0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM067325751614138
HP:0000522HP:0000522Alacrima0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM057325751614138


Genes (12) :AAAS DST ELP1 FGF10 FGFR2 FGFR3 GMPPA NGLY1 PAX1 SETBP1 SOX10 TRAPPC11

Diseases (11) :231550 614653 1764 223900 149730 615510 615273 615560 798 609136 615356
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.