| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000526 | Aniridia | "Congenital absence of the iris." [HPO:curators] |
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| HP:0000677 | Oligodontia | "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators] |
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| HP:0000691 | Microdontia | |
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| HP:0000958 | Dry skin | |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001180 | Oligodactyly (hands) | "A developmental defect resulting in the presence of fewer than the normal number of fingers." [HPO:curators] |
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| HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001839 | Ectrodactyly (feet) | "A condition in which the middle toe is missing, and the foot is cleft where the metatarsal corresponding to the toe would normally be." [HPO:curators] |
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| HP:0001849 | Oligodactyly (feet) | "A developmental defect resulting in the presence of fewer than the normal number of toes." [HPO:curators] |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0004050 | Absent hands | |
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| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0008070 | Sparse hair | |
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| HP:0012165 | Oligodactyly | "A developmental defect resulting in the presence of fewer than the normal number of digits." [HPO:probinson] |
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| HP:0045075 | Sparse eyebrow | "Decreased density/number of eyebrow hairs." [HPO:skoehler] |
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