All terms in DOID

Label Id Description
peeling skin syndrome 4 DOID_0070523 [A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1.]
peeling skin syndrome 5 DOID_0070524 [A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1.]
peeling skin syndrome 2 DOID_0070521 [A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2.]
peeling skin syndrome 3 DOID_0070522 [A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13.]
peeling skin syndrome 1 DOID_0070520 [A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33.]
Sifrim-Hitz-Weiss syndrome DOID_0070529 [An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31.]
Human adenovirus 7 NCBITaxon_10519
Borrelia miyamotoi disease DOID_0070527 [A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses.]
cepacia syndrome DOID_0070528 [An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission.]
Abnormal mastoid morphology HP_0000264
Abnormal hair morphology HP_0001595
Abnormal skin adnexa morphology HP_0011138
Abnormal nail morphology HP_0001597
Aurantioideae NCBITaxon_1728959
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures DOID_0070536 [An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.]
spastic tetraplegia, thin corpus callosum, and progressive microcephaly DOID_0070537 [An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14.]
Abnormal reproductive system morphology HP_0012243
arrhythmogenic left ventricular cardiomyopathy DOID_0070534 [An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle.]
arrhythmogenic biventricular cardiomyopathy DOID_0070535 [An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns.]
aniridia 1 DOID_0070532 [An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common.]