All terms in DOID

Label Id Description
heteropolycyclic compound CHEBI_33671
heteromonocyclic compound CHEBI_33670
combined oxidative phosphorylation deficiency 57 DOID_0070430 [A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12.]
lipid CHEBI_18059
hyperphosphatasia with impaired intellectual development syndrome 6 DOID_0070437 [A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22.]
hyperphosphatasia with impaired intellectual development syndrome DOID_0070431 [An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed.]
hyperphosphatasia with impaired intellectual development syndrome 3 DOID_0070435 [A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15.]
hyperphosphatasia with impaired intellectual development syndrome 4 DOID_0070436 [A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12.]
succinylcholine CHEBI_45652
quaternary ammonium ion CHEBI_35267
succinate ester CHEBI_36181
hyperphosphatasia with impaired intellectual development syndrome 1 DOID_0070433 [A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36.]
hyperphosphatasia with impaired intellectual development syndrome 2 DOID_0070434 [A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13.]
hyperphosphatasia with impaired intellectual development syndrome 5 DOID_0070432 [A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12.]
North Carolina macular dystrophy DOID_0070439 [A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.]
Macrocephaly HP_0000256
Increased head circumference HP_0040194
peeling skin syndrome 6 DOID_0070525 [A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3.]
peeling skin syndrome DOID_0060283 [A skin disease that is characterized by the painless, continuous peeling of the top layer of skin.]
PLACK syndrome DOID_0070526 [An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15.]