| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
Show
|
| HP:0000376 | Mondini malformation | "The normal cochlea has two and one half turns. Mondini malformation refers to the development of only one and a half turns of the cochlea. The defect usually occurs in the seventh week of gestation after development of the basal turn. There is incomplete partition with resulting confluency of the middle and apical turns." [HPO:curators] |
Show
|
| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
Show
|
| HP:0000821 | Hypothyroidism | |
Show
|
| HP:0000843 | Hyperparathyroidism | |
Show
|
| HP:0000853 | Goiter | "An enlargement of the thyroid gland." [HPO:curators] |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
Show
|
| HP:0001751 | Vestibular dysfunction | |
Show
|
| HP:0001939 | Metabolism abnormality | |
Show
|
| HP:0002093 | Respiratory insufficiency | |
Show
|
| HP:0002167 | Neurological speech impairment | |
Show
|
| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
Show
|
| HP:0002777 | Tracheal stenosis | |
Show
|
| HP:0002890 | Thyroid carcinoma | |
Show
|
| HP:0008223 | Compensated hypothyroidism | |
Show
|
| HP:0008527 | Congenital sensorineural hearing loss | |
Show
|
| HP:0008554 | Cochlear malformation | "A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two." [HPO:curators] |
Show
|
| HP:0008586 | Hypoplastic cochlea | |
Show
|
| HP:0011387 | Enlarged vestibular aqueduct | "Increased size of the vestibular aqueduct." [DDD:mbitner-glidicz] |
Show
|
