Experimental Factor Ontology
133 terms(s) returned
| Term Type: | Record: 1 to 50 of 133 Records | Page: 1 of 3, First Previous Next Last | Show Records Per Page |
- SPONASTRIME dysplasia
- SURF1-related Charcot-Marie-Tooth disease type 4
- Sanjad-Sakati syndrome
- Scalp defects - postaxial polydactyly
- Scapuloperoneal amyotrophy
- Schöpf-Schulz-Passarge syndrome
- Sea-blue histiocytosis
- Secondary glaucoma due to a proliferation and differentiation anomaly
- Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
- Seizures - intellectual disability due to hydroxylysinuria
- Sensorineural deafness with dilated cardiomyopathy
- Sensorineural hearing loss - early graying - essential tremor
- Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
- Septo-optic dysplasia
- Severe achondroplasia - developmental delay - acanthosis nigricans
- Severe combined immunodeficiency due to adenosine deaminase deficiency
- Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
- Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia
- Severe intellectual disability and progressive spastic paraplegia
- Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
- Short fifth metacarpals - insulin resistance
- Short rib-polydactyly syndrome, Beemer-Langer type
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Short stature - craniofacial anomalies - genital hypoplasia
- Short stature - deafness - neutrophil dysfunction - dysmorphism
- Short stature - intellectual disability - eye anomalies - cleft lip/palate
- Short stature - pituitary and cerebellar defects - small sella turcica
- Short stature - valvular heart disease - characteristic facies
- Short stature - webbed neck - heart disease
- Short stature - wormian bones - dextrocardia
- Short stature-optic atrophy-Pelger-Huët anomaly syndrome
- Short tarsus - absence of lower eyelashes
- Short ulna - dysmorphism - hypotonia - intellectual disability
- Shoulder and girdle defects - familial intellectual disability
- Shoulder and thorax deformity - congenital heart disease
- Sickle cell - beta-thalassemia disease
- Sickle cell - hemoglobin C disease
- Sickle cell - hemoglobin D disease
- Sickle cell - hemoglobin E disease
- Silver-Russell syndrome due to a point mutation
- Silver-Russell syndrome due to imprinting defect of 11p15
- Single ventricular septal defect
- Situs inversus totalis
- Sjögren-Larsson syndrome
- Skeletal dysplasia - epilepsy - short stature
- Skeletal dysplasia - intellectual disability
- Sorsby's fundus dystrophy
- Sparse hair - short stature - skin anomalies
- Spastic ataxia - corneal dystrophy
- Spastic ataxia with congenital miosis
