|
primary pigmented nodular adrenocortical disease 4
|
DOID_0070549 |
[A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene.] |
|
cataplexy
|
SYMP_0000408 |
[Cataplexy is a muscle symptom characterized by a sudden loss of muscle control with retention of clear consciousness that follows a strong emotional stimulus (as elation, surprise, or anger) and is a characteristic symptom of narcolepsy.] |
|
autosomal recessive intellectual developmental disorder 39
|
DOID_0081204 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12.] |
|
hyperthermia
|
SYMP_0000409 |
[A high fever that is characterized by an exceptionally high fever especially when induced artificially for therapeutic purposes.] |
|
high fever
|
SYMP_0000882 |
[A fever that is characterized by an elevated temperature.] |
|
autosomal recessive intellectual developmental disorder 40
|
DOID_0081205 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24.] |
|
bruise
|
SYMP_0000406 |
[A skin and integumentary tissue symptom that is characterized by an injury transmitted through unbroken skin to underlying tissue causing rupture of small blood vessels and escape of blood into the tissue with resulting discoloration.] |
|
autosomal recessive intellectual developmental disorder 41
|
DOID_0081206 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.] |
|
syncope
|
SYMP_0000407 |
[An alteration of consciousness that is characterized by a loss of consciousness resulting from insufficient blood flow to the brain.] |
|
autosomal recessive intellectual developmental disorder 43
|
DOID_0081207 |
[An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays.] |
|
Sepolyvirales
|
NCBITaxon_2732532 |
|
|
Papovaviricetes
|
NCBITaxon_2732421 |
|
|
dyspareunia
|
SYMP_0000404 |
|
|
autosomal recessive intellectual developmental disorder 34
|
DOID_0081200 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22.] |
|
vaginismus
|
SYMP_0000405 |
[A reproductive system symptom that is characterized by a painful spasmodic contraction of the vagina.] |
|
aggregate regional part of brain
|
UBERON_0010009 |
|
|
autosomal recessive intellectual developmental disorder 35
|
DOID_0081201 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258.] |
|
inheritance pattern
|
GENO_0000141 |
|
|
cachexia
|
SYMP_0000402 |
[A nutrition, metabolism, and development symptom that is characterized by a general physical wasting and malnutrition usually associated with chronic disease.] |
|
autosomal recessive intellectual developmental disorder 37
|
DOID_0081202 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21.] |
