Experimental Factor Ontology
271 terms(s) returned
| Term Type: | Record: 1 to 50 of 271 Records | Page: 1 of 6, First Previous Next Last | Show Records Per Page |
- ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
- ALG13-CDG
- Absence deformity of leg - cataract
- Absence of fingerprints - congenital milia
- Absent thumb - short stature - immunodeficiency
- Absent tibia - polydactyly
- Absent tibia - polydactyly - arachnoid cyst
- Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
- Achalasia - microcephaly
- Acheiropodia
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Achondrogenesis type 2
- Acid phosphatase deficiency
- Acro-cardio-facial syndrome
- Acro-fronto-facio-nasal dysostosis
- Acro-oto-ocular syndrome
- Acro-pectoral syndrome
- Acro-pectoro-renal dysplasia
- Acrofacial dysostosis, Rodríguez type
- Acromelic frontonasal dysplasia
- Acromesomelic dysplasia, Grebe type
- Acromesomelic dysplasia, Hunter-Thomson type
- Acromesomelic dysplasia, Maroteaux type
- Action myoclonus - renal failure syndrome
- Acute hepatic porphyria
- Acute infantile liver failure-multisystemic involvement syndrome
- Adducted thumbs - arthrogryposis, Christian type
- Adult familial nephronophthisis - spastic quadriparesia
- Adult-onset autosomal dominant leukodystrophy
- Adult-onset autosomal recessive cerebellar ataxia
- Adult-onset autosomal recessive sideroblastic anemia
- Adult-onset dystonia-parkinsonism
- Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
- Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
- Agnathia - holoprosencephaly - situs inversus
- Aicardi-Goutières syndrome
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- Alar cartilages hypoplasia - coloboma - telecanthus
- Albers-Schönberg osteopetrosis
- Albinism-deafness syndrome
- Albright hereditary osteodystrophy
- Alopecia - epilepsy - pyorrhea - intellectual disability
- Alopecia - intellectual disability - hypergonadotropic hypogonadism
- Alopecia universalis
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Alopecia-intellectual disability syndrome
- Alpers syndrome
- Alpha-1-antichymotrypsin deficiency
- Alpha-1-antitrypsin deficiency
