All terms in DOID

Label Id Description
akinetic mutism DOID_4267 [A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.]
Noonan syndrome-like disorder with loose anagen hair DOID_0080691 [A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay.]
Noonan syndrome-like disorder with loose anagen hair 1 DOID_0080692 [A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25.]
immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOID_0090008 [An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2.]
immunodeficiency-centromeric instability-facial anomalies syndrome 2 DOID_0090009 [An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21.]
Noonan syndrome-like disorder with loose anagen hair 2 DOID_0080693 [A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23.]
warfarin resistance DOID_0080665 [An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin.]
warfarin sensitivity DOID_0080666 [An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin.]
spinal muscular atrophy type 0 DOID_0080667 [A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.]
childhood spinal muscular atrophy DOID_0060160 [A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene.]
susceptibility to cutaneous malignant melanoma 8 MIM_614456
nonsyndromic aplasia cutis congenita DOID_0080661 [A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11.]
atrial standstill 1 DOID_0080662 [A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype.]
atrial standstill 2 DOID_0080663 [A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36.]
diaphyseal medullary stenosis with malignant fibrous histiocytoma DOID_0080664 [An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.]
chills SYMP_0019174
malaise SYMP_0019176 [A neurological and physiological symptom that is characterized by an indefinite feeling of debility or lack of health, often indicative of or accompanying the onset of an illness.]
posterior polymorphous corneal dystrophy 4 DOID_0080669 [A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22.]
necrotic lesion SYMP_0019178 [A skin and integumentary tissue symptom that is characterized by regions of cell death to living tissue in an organ, which has suffered damage through injury or disease, such as a wound, ulcer, abscess, or tumor.]
lightheadedness SYMP_0019179 [A balance symptom that is characterized by a condition of being dizzy or on the verge of fainting, particularly when one arises to a standing position. Lightheadedness is a predictable consequence of any medication tending to lower blood pressure.]