| 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:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000488 | Retinopathy | |
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| HP:0000958 | Dry skin | |
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| HP:0001249 | Mental retardation | |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001276 | Hypertonia | |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001480 | Freckling | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001595 | Hair abnormality | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001881 | Abnormality of leukocytes | |
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| HP:0001903 | Anemia | |
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| HP:0001915 | Aplastic anemia | |
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| HP:0001928 | Abnormality of coagulation | |
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| HP:0002071 | Extrapyramidal signs | |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002216 | Premature graying of hair | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002664 | Neoplasia | "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators] |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002745 | Oral leukoplakia | |
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| HP:0002861 | Malignant melanoma | "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators] |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0003764 | Abnormal or excess nevi | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004334 | Dermal atrophy | "Partial or complete wasting (atrophy) of the skin." [HPO:curators] |
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| HP:0005528 | Bone marrow hypoplasia | |
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| HP:0006753 | Increased gastric cancer | |
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| HP:0007392 | Excessive wrinkled skin | |
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| HP:0007440 | Generalized hyperpigmentation | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0010450 | Esophageal stenosis | "An abnormal narrowing of the lumen of the esophagus." [HPO:curators] |
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| HP:0011358 | Generalized hypopigmentation of hair | "Reduced pigmentation of hair diffusely." [DDD:cmoss] |
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| HP:0100013 | Neoplasia of the breast | |
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| HP:0100763 | Abnormality of the lymphatic system | |
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