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| created at |
2017-12-21 11:07:44 UTC |
| updated at |
2017-12-22 12:31:05 UTC |
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2 layers
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520,470 entries
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There is 0 pattern entry.
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Small pterygia (axillary, popliteal)
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DISO:OMIM |
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Caused by mutation in the bridging integrator 1 gene (BIN1, 601248.0001)
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DISO:OMIM |
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Worldwide incidence of 1 in 185,000 live births
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DISO:OMIM |
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All other sensory modalities are intact
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DISO:OMIM |
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Short, sparse, fine hair
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DISO:OMIM |
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HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES
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DISO:OMIM |
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Humeroradial Synostosis with Craniofacial Anomalies
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DISO:MSH |
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GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE
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DISO:OMIM |
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Gangliosidosis, Generalized GM1, Late-Infantile Type
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DISO:MSH |
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Usually a manifestation of the Carney complex (CNC1, 1609890)
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DISO:OMIM |
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Calcified, ulcerating nodules
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DISO:OMIM |
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Caused by mutation in the sterile alpha motif domain-containing protein-9 gene (SAMD9, 610456.0001).
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DISO:OMIM |
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Calf hypertrophy (less common)
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DISO:OMIM |
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Multiple pulp stones (secondary teeth)
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DISO:OMIM |
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Absent/poor corticomedullary differentiation (some patients)
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DISO:OMIM |
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