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PFAPA syndrome
|
DOID_0081451 |
[An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.] |
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epithelioid neurofibroma
|
DOID_5149 |
|
|
mitochondrial DNA depletion syndrome 3
|
DOID_0080121 |
[A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13.] |
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Iris coloboma
|
HP_0000612 |
|
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Coloboma
|
HP_0000589 |
|
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Abnormality iris morphology
|
HP_0000525 |
|
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multiple endocrine neoplasia type 4
|
DOID_0080137 |
[A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked.] |
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obsolete syphilitic aortitis
|
DOID_11582 |
|
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multiple congenital anomalies-hypotonia-seizures syndrome 1
|
DOID_0080138 |
[A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.] |
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phlyctenulosis
|
DOID_11581 |
|
|
keratoconjunctivitis
|
DOID_9368 |
|
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Glucose intolerance
|
HP_0001952 |
|
|
multiple congenital anomalies-hypotonia-seizures syndrome 2
|
DOID_0080139 |
[A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22.] |
|
louping ill
|
DOID_10250 |
[A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus (Orthoflavivirus loupingi), which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs.] |
|
multiple mitochondrial dysfunctions syndrome 1
|
DOID_0080133 |
[A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13.] |
|
multiple mitochondrial dysfunctions syndrome 2
|
DOID_0080134 |
[A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13.] |
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multiple mitochondrial dysfunctions syndrome 3
|
DOID_0080135 |
[A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42.] |
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multiple mitochondrial dysfunctions syndrome 4
|
DOID_0080136 |
[A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24.] |
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Riley-Day syndrome
|
DOID_11589 |
[A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31.] |
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obsolete vitamin A deficiency
|
DOID_10257 |
|
