Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
brachydactyly of toes, bilateral	MONDO_0017518
symbrachydactyly of hand and foot, unilateral	MONDO_0017519
symbrachydactyly of hands and feet	MONDO_0015516	[Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.]
split hand, bilateral	MONDO_0017512	[Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.]
split hand	MONDO_0017449	[Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.]
split foot, unilateral	MONDO_0017513
split foot	MONDO_0017450
split foot, bilateral	MONDO_0017514
brachydactyly of fingers, unilateral	MONDO_0017515
adactyly of foot, bilateral	MONDO_0017510
split hand, unilateral	MONDO_0017511	[Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.]
uterine leiomyosarcoma cell line	BTO_0002488
adactyly of foot, unilateral	MONDO_0017509
polydactyly of an index finger, unilateral	MONDO_0017527
polydactyly of an index finger	MONDO_0008271	[Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.]
polydactyly of an index finger, bilateral	MONDO_0017528
polysyndactyly, unilateral	MONDO_0017529
polysyndactyly 4	MONDO_0008272	[Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.]
polydactyly of a biphalangeal thumb, unilateral	MONDO_0017523
polydactyly of a biphalangeal thumb	MONDO_0008269	[Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.]