| HP:0000232 | Everted lower lip | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000331 | Small chin | |
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| HP:0000336 | Prominent supraorbital ridges | "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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| HP:0000457 | Flat nose | |
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| HP:0000535 | Sparse eyebrows | |
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| HP:0000607 | Periorbital wrinkles | |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000674 | Anodontia | "The congenital absence of all teeth." [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:0000679 | Taurodontia | |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000691 | Microdontia | |
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| HP:0000698 | Conical teeth | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000830 | Hypopituitarism | "A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the eight pituitary hormones." [HPO:curators] |
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| HP:0000958 | Dry skin | |
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| HP:0000963 | Thin skin | |
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| HP:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0000970 | Anhidrosis | "Inability to sweat." [HPO:curators] |
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| HP:0000977 | Soft skin | |
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| HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
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| HP:0001106 | Periorbital hyperpigmentation | |
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| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001598 | Koilonychia | |
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| HP:0001609 | Hoarse voice | |
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| HP:0001618 | Dysphonia | |
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| HP:0001945 | Fever | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002046 | Intolerance to heat and fever | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002223 | Absent eyebrows | |
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| HP:0002231 | Sparse body hair | "Sparseness of the body hair." [HPO:probinson] |
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| HP:0002299 | Fine, brittle hair | |
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| HP:0002557 | Hypoplastic nipples | |
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| HP:0002561 | Absent nipples | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0007411 | Hypoplastic-absent sebaceous glands | |
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| HP:0007592 | Hypoplastic-absent eccrine sweat glands | |
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| HP:0007607 | Hypohidrotic ectodermal dysplasia | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0010667 | Aplasia of the maxilla | "A congenital defect characterized by absence of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0010803 | Everted upper lip vermilion | "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an `everted` (PATO:0001597) `upper lip` (FMA:59817)." [HPO:probinson, pmid:19125428] |
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| HP:0011051 | Agenesis of premolar | "`Agenesis` (MPATH:57) of `premolar tooth` (FMA:55637)." [HPO:ibailleulforestier] |
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| HP:0011054 | Agenesis of molar | "`Agenesis` (MPATH:57) of `molar tooth` (FMA:55638)." [HPO:ibailleulforestier] |
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| HP:0011830 | Abnormality of oral mucosa | "Abnormality of the `oral mucosa` (FMA:59660)." [HPO:probinson] |
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| HP:0012471 | Thick vermilion border | "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson] |
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| HP:0100651 | Diabetes mellitus Type I | |
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| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | "Absence or underdevelopment of the eyebrow." [HPO:probinson] |
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| HP:0200153 | Agenesis of lateral incisor | |
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