|
susceptibility to malignant hyperthermia 5
|
MIM_601887 |
|
|
obsolete nodular lymphoma involving lymph nodes of head, face, and neck
|
DOID_8773 |
|
|
rapid respiration
|
SYMP_0000730 |
[A respiratory abnormality that is characterized by an increased breathing rate, with more than 20 breaths per minute in an adult, while in children, the number of breaths per minute can be a higher resting rate than seen in adults.] |
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renal pelvis inverted papilloma
|
DOID_6118 |
|
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renal pelvis urothelial papilloma
|
DOID_6119 |
|
|
non-syndromic X-linked intellectual disability 106
|
DOID_0080240 |
[A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1.] |
|
Crohn's disease
|
DOID_8778 |
[An intestinal disease that involves inflammation located_in intestine.] |
|
inflammatory bowel disease
|
DOID_0050589 |
[An intestinal disease characterized by inflammation located in all parts of digestive tract.] |
|
lateral ventricle meningioma
|
DOID_6115 |
|
|
syndromic X-linked mental retardation 35
|
DOID_0080241 |
[A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28.] |
|
syndromic X-linked mental retardation Hough type
|
DOID_0080242 |
[A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22.] |
|
hemodynamic instability
|
SYMP_0000749 |
|
|
autosomal recessive congenital ichthyosis 14
|
DOID_0080258 |
[An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13.] |
|
autosomal recessive spinocerebellar ataxia 25
|
DOID_0080259 |
[An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21.] |
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extreme prostration
|
SYMP_0000747 |
|
|
yaws
|
DOID_10371 |
[A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions.] |
|
facial edema
|
SYMP_0000748 |
[An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the face.] |
|
change in body sensation
|
SYMP_0000745 |
|
|
orofaciodigital syndrome XVI
|
DOID_0080254 |
[An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.] |
|
enanthem
|
SYMP_0000746 |
[A skin and integumentary tissue symptom that is characterized by an eruption on a mucous surface.] |