Experimental Factor Ontology
53 terms(s) returned
| Term Type: | Record: 1 to 50 of 53 Records | Page: 1 of 2, First Previous Next Last | Show Records Per Page |
- LIG4 syndrome
- LOC syndrome
- Lacrimoauriculodentodigital syndrome
- Laing early-onset distal myopathy
- Langer-Giedion syndrome
- Larsen-like osseous dysplasia - short stature
- Laryngeal abductor paralysis - intellectual disability
- Late-onset ataxia with dementia
- Late-onset distal myopathy, Markesbery-Griggs type
- Late-onset localized junctional epidermolysis bullosa - intellectual disability
- Late-onset primary lymphedema
- Legg-Calvé-Perthes disease
- Leprechaunism
- Lethal arthrogryposis - anterior horn cell disease
- Lethal ataxia with deafness and optic atrophy
- Lethal congenital contracture syndrome type 1
- Lethal congenital contracture syndrome type 2
- Lethal congenital contracture syndrome type 3
- Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
- Lethal hemolytic anemia - genital anomalies
- Lethal restrictive dermopathy
- Leukocyte adhesion deficiency type I
- Leukocyte adhesion deficiency type III
- Leukoencephalopathy - ataxia - hypodontia - hypomyelination
- Leukoencephalopathy - dystonia - motor neuropathy
- Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
- Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
- Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair
- Leydig cell hypoplasia due to LHB deficiency
- Lichstenstein syndrome
- Limb dystonia
- Limb overgrowth
- Linear nevus sebaceus syndrome
- Lipid storage disease
- Lipodystrophy - intellectual disability - deafness
- Lipoic acid biosynthesis defect
- Lipoma associated with neurospinal dysraphism
- Lissencephaly syndrome, Norman-Roberts type
- Lissencephaly type 3 - familial fetal akinesia sequence
- Lissencephaly type 3 - metacarpal bone dysplasia
- Localized epidermolysis bullosa simplex
- Low birth weight - dwarfism - dysgammaglobulinemia
- Lower limb deficiency - hypospadias
- Lung agenesis - heart defect - thumb anomalies
- Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
- Lymphedema - atrial septal defects - facial changes
- Lymphedema - cerebral arteriovenous anomaly
- Lymphedema - cleft palate
- Lymphedema - distichiasis
- Lysosomal disease
