All terms in DOID

Label Id Description
neurodevelopmental disorder with speech impairment and dysmorphic facies DOID_0070417 [A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.]
vertebral hypersegmentation and orofacial anomalies DOID_0070418 [A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13.]
Abnormal lip morphology HP_0000159
Abnormal oral cavity morphology HP_0000163
Abnormality of the mouth HP_0000153
Abnormality of the face HP_0000271
incomplete bladder emptying SYMP_0000558 [A urinary system symptom that is characterized by a bladder that is not empty.]
voice disturbance SYMP_0000559
localized superficial lump SYMP_0000556
urinary retention SYMP_0000557 [A urinary system symptom that is characterized by an inability to empty the bladder completely during the process of voiding (urination).]
Freckling HP_0001480
Abnormality of head or neck HP_0000152
cadmium CHEBI_22977 [A heavy metal that is cadmium, a soft, malleable, bluish white metal found in zinc ores.]
Pseudomonadati NCBITaxon_3379134
left lower quadrant abdominal rigidity SYMP_0000554
left upper quadrant abdominal swelling SYMP_0000555
meningismus SYMP_0000552 [A nervous system symptom that is characterized by a state of meningeal irritation with symptoms suggesting meningitis that often occurs at the onset of acute febrile diseases especially in children.]
neurologic neglect syndrome SYMP_0000553
clubbing of fingers SYMP_0000550
disturbances of sensation of smell and taste SYMP_0000551