Experimental Factor Ontology
136 terms(s) returned
Term Type: | Record: 51 to 100 of 136 Records | Page: 2 of 3, First Previous Next Last | Show Records Per Page |
- Pierre Robin syndrome associated with branchial archs anomalies
- Pierre Robin syndrome associated with collagen disease
- Pierre Robin syndrome associated with miscellaneous anomalies
- Pigmentation disorder with eye involvement
- Pigmentation disorder with eye involvement, excluding albinism
- Pili torti - developmental delay - neurological abnormalities
- Pili torti - onychodysplasia
- Pilodental dysplasia - refractive errors
- Platelet storage pool disease
- Polymalformative genetic syndrome with increased risk of developing cancer
- Polymicrogyria - turricephaly - hypogenitalism
- Polymicrogyria due to TUBB2B mutation
- Polyneuropathy - hand defect
- Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
- Polyneuropathy - intellectual disability - acromicria - premature menopause
- Polysomy of X chromosome
- Polysyndactyly
- Polysyndactyly - cardiac malformation
- Porphyria variegata
- Postaxial polydactyly - dental and vertebral anomalies
- Postaxial polydactyly of toes
- Postaxial polydactyly of toes, bilateral
- Postaxial polydactyly of toes, unilateral
- Posterior column ataxia - retinitis pigmentosa
- Posterior fusion of lumbosacral vertebrae - blepharoptosis
- Posterior polar cataract
- Postlingual non-syndromic genetic deafness
- Postsynaptic congenital myasthenic syndromes
- Prader-Willi syndrome due to point mutation
- Prader-Willi-like syndrome due to point mutation
- Preaxial polydactyly - colobomata - intellectual disability
- Prelingual non-syndromic genetic deafness
- Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
- Presynaptic congenital myasthenic syndromes
- Primary basilar impression
- Primary bone dysplasia
- Primary bone dysplasia with decreased bone density
- Primary bone dysplasia with defective bone mineralization
- Primary bone dysplasia with micromelia
- Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
- Primary ciliary dyskinesia - retinitis pigmentosa
- Primary congenital hypothyroidism without thyroid developmental anomaly
- Primary dystonia, DYT13 type
- Primary dystonia, DYT21 type
- Primary dystonia, DYT4 type
- Primary dystonia, DYT6 type
- Primary glaucoma
- Primary hemophagocytic lymphohistiocytosis
- Primary hypergonadotropic hypogonadism - partial alopecia
- Primary hypomagnesemia with secondary hypocalcemia