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0000169.xml
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0000169.xml
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<?xml version="1.0" encoding="UTF-8"?>
<Document id="0000169" source="GARD" url="https://rarediseases.info.nih.gov/gard/384/adult-syndrome">
<Focus>ADULT syndrome</Focus>
<FocusAnnotations>
<UMLS>
<CUIs>
<CUI>C1863204</CUI>
</CUIs>
<SemanticTypes>
<SemanticType>T047</SemanticType>
</SemanticTypes>
<SemanticGroup>Disorders</SemanticGroup>
</UMLS>
<Synonyms>
<Synonym>Acro-dermato-ungual-lacrimal-tooth syndrome</Synonym>
<Synonym>Acro dermato ungual lacrimal tooth syndrome</Synonym>
</Synonyms>
</FocusAnnotations>
<QAPairs>
<QAPair pid="1">
<Question qid="0000169-1" qtype="symptoms">What are the symptoms of ADULT syndrome ?</Question>
<Answer>What are the signs and symptoms of ADULT syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADULT syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Dry skin 90% Fine hair 90% Finger syndactyly 90% Freckling 90% Melanocytic nevus 90% Skin ulcer 90% Split foot 90% Thin skin 90% Toe syndactyly 90% Abnormality of dental morphology 50% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Prominent nasal bridge 7.5% Absent nipple - Adermatoglyphia - Autosomal dominant inheritance - Breast hypoplasia - Conjunctivitis - Cutaneous photosensitivity - Dermal atrophy - Ectodermal dysplasia - Eczema - Fair hair - Hypodontia - Hypoplastic nipples - Microdontia - Nail pits - Nasolacrimal duct obstruction - Oligodontia - Oral cleft - Premature loss of permanent teeth - Sparse axillary hair - Sparse scalp hair - Split hand - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.</Answer>
</QAPair>
</QAPairs>
</Document>