Experimental Factor Ontology
41 terms(s) returned
| Term Type: | Record: 1 to 41 of 41 Records | Page: 1 of 1, First Previous Next Last | Show Records Per Page |
- NLRP12-associated hereditary periodic fever syndrome
- Nager syndrome
- Nasu-Hakola disease
- Natal teeth - intestinal pseudoobstruction - patent ductus
- Native American myopathy
- Neonatal acute respiratory distress with surfactant metabolism deficiency
- Nephroblastoma
- Nephrogenic diabetes insipidus - intracranial calcification
- Nephropathy-deafness-hyperparathyroidism syndrome
- Nephrosis - deafness - urinary tract - digital malformations
- Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
- Neurocutaneous syndrome with epilepsy
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Neurodegenerative disease with chorea
- Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
- Neurofibromatosis type 6
- Neurogenic arthrogryposis multiplex congenita
- Neurologic Waardenburg-Shah syndrome
- Neurological conditions associated with aminoacylase 1 deficiency
- Neuromuscular disease with dilated cardiomyopathy
- Neuronal intestinal pseudoobstruction
- Neutropenia - monocytopenia - deafness
- Night blindness - skeletal anomalies - dysmorphism
- Nodulosis-arthropathy-osteolysis syndrome
- Non progressive epilepsy and/or ataxia with myoclonus as a major feature
- Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
- Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
- Non-acquired isolated growth hormone deficiency
- Non-acquired premature ovarian failure
- Non-distal monosomy 7p
- Non-dystrophic myopathy with collagen 6 anomaly
- Non-epidermolytic palmoplantar keratoderma
- Non-eruption of teeth - maxillary hypoplasia - genu valgum
- Non-hereditary late-onset primary lymphedema
- Non-polyposis Turcot syndrome
- Non-progressive cerebellar ataxia with intellectual disability
- Non-syndromic cerebral malformation due to abnormal neuronal migration
- Non-syndromic genetic deafness
- Non-syndromic pontocerebellar hypoplasia
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
- Not NOTCH3-related small vessel disease of the brain
