All terms in DOID

Label Id Description
right lower quadrant abdominal rigidity SYMP_0000467
failure to thrive SYMP_0000465 [A lack of expected normal physiological development in childhood that is characterized by a decelerated or arrested physical growth (height and weight measurements fall below the third or fifth percentile, or a downward change in growth across two major growth percentiles) and is associated with abnormal growth and development.]
Abnormal metencephalon morphology HP_0011283
lack of normal physiological development SYMP_0000463
hepatomegaly SYMP_0000460
infantile hypotonia with psychomotor retardation and characteristic facies-3 DOID_0060935 [An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24.]
dystonia 28, childhood-onset DOID_0060936 [A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13.]
dystonia 30 DOID_0060937 [A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13.]
Gunneridae NCBITaxon_91827
dystonia 31 DOID_0060938 [A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22.]
dystonia 32 DOID_0060939 [A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.]
obsolete Mental disorder complicating pregnancy, childbirth, or the puerperium DOID_1047
abnormality of gait SYMP_0000479 [Abnormality of gait is a nervous system and musculoskeletal system symptom characterized by a difficulty in the manner of walking or moving on foot.]
obsolete fascia disease DOID_1045
Skeletal dysplasia HP_0002652
obsolete nontraumatic rupture of muscle DOID_1044
obsolete Generalized infection during labor DOID_1042
developmental dysplasia of the hip DOID_0060930 [A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum.]
chronic lymphocytic leukemia DOID_1040 [A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.]
lymphoid leukemia DOID_1037 [A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.]