{"Name":"Autosomal dominant deafness - onychodystrophy syndrome","DiseaseID__c":"GARD:0004732","id":4732,"encodedName":"autosomal-dominant-deafness-onychodystrophy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant deafness - onychodystrophy syndrome","Xref_IDs__c":"C175240; C2675730; DOID:0080720; MEDGEN:382676; MONDO:0007420; OMIM:124480; ORPHA:79499","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007420","Disease_Description__c":"A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.","GARD_Name__c":"Autosomal dominant deafness - onychodystrophy syndrome","GARD_Synonym__c":"autosomal dominant deafness with onychodystrophy syndrome; autosomal dominant deafness-onychodystrophy syndrome; autosomal dominant hearing loss-onychodystrophy syndrome; autosomal dominant hearing loss, onychodystrophy syndrome; ddod (dominant deafness onychodystrophy) syndrome; ddod syndrome; deafness-onychodystrophy syndrome, autosomal dominant; deafness, congenital, with onychodystrophy, autosomal dominant","Curated_Disease_Description_Source__c":"MONDO:0007420","Curated_Disease_Description__c":"A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:79499","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007420","ORPHANET_ID__c":"ORPHA:79499","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sordera-onicodistrofia autosómica dominante","Spanish_Description_Source__c":"ORPHA:79499","Spanish_Description__c":"Es un síndrome de múltiples anomalías congénitas poco frecuentes caracterizado por deficiencia auditiva congénita, uñas pequeñas o ausentes en las manos y en los pies y falanges terminales ausentes.","Spanish_Disease_Name__c":"síndrome de sordera-onicodistrofia autosómica dominante","Spanish_GARD_Synonym__c":"síndrome ddod; síndrome de hipoacusia-onicodistrofia autosómica dominante","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.","Curated_Disease_Description_Source__c":"MONDO:0007420","GARD_Synonym__c":"autosomal dominant deafness with onychodystrophy syndrome; autosomal dominant deafness-onychodystrophy syndrome; autosomal dominant hearing loss-onychodystrophy syndrome; autosomal dominant hearing loss, onychodystrophy syndrome; ddod (dominant deafness onychodystrophy) syndrome; ddod syndrome; deafness-onychodystrophy syndrome, autosomal dominant; deafness, congenital, with onychodystrophy, autosomal dominant","Name":"Autosomal dominant deafness - onychodystrophy syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79499"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:79499"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2675730"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004732","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/79499","Source__c":"C2675730; MONDO:0007420; ORPHA:79499","Xref__c":"ORPHA:79499"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2675730","Source__c":"C2675730","Xref__c":"C2675730"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080720","Source__c":"MONDO:0007420","Xref__c":"DOID:0080720"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=382676","Source__c":"C2675730","Xref__c":"MEDGEN:382676"},{"URL__c":"https://www.omim.org/entry/124480","Source__c":"C2675730; MONDO:0007420; ORPHA:79499","Xref__c":"OMIM:124480"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208614008","Source__c":"C2675730","Xref__c":"1208614008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C175240","Source__c":"C2675730","Xref__c":"C175240"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007420","Source__c":"GARD:0004732","Xref__c":"MONDO:0007420"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATP6V1B2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001199","HPO_Synonym__c":"Accessory phalanx of the thumb; Digitalized thumb; Finger-like thumb; Triphalangeal thumbs; Triphalangy of thumb","HPO_Name__c":"Triphalangeal thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of six or more teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000677","HPO_Synonym__c":"Failure of development of more than six teeth; Partial anodontia","HPO_Name__c":"Oligodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001057","HPO_Synonym__c":"Absence of part of skin at birth; Congenital absence of skin; Cutis aplasia","HPO_Name__c":"Aplasia cutis congenita","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe form of sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008625","HPO_Synonym__c":"Severe sensorineural deafness; Severe sensorineural hearing loss","HPO_Name__c":"Severe sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of thumb nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012554","HPO_Name__c":"Absent thumbnail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Aplasia or developmental hypoplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008386","HPO_Synonym__c":"Absent/hypoplastic nails; Absent/small nails; Absent/underdeveloped nails; Nail aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia of the nails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002465","HPO_Synonym__c":"Poor speech","HPO_Name__c":"Poor speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital absence of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001802","HPO_Synonym__c":"Absent toenail","HPO_Name__c":"Absent toenail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000268","HPO_Synonym__c":"Long, narrow head; Tall and narrow skull","HPO_Name__c":"Dolichocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of a fingernail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001817","HPO_Synonym__c":"Absent fingernail; Aplasia of the fingernail","HPO_Name__c":"Absent fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200141","HPO_Synonym__c":"Conical microdontia; Small, cone shaped teeth","HPO_Name__c":"Small, conical teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of nail of little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200104","HPO_Synonym__c":"Absent fifth fingernail; Absent nail of fifth finger","HPO_Name__c":"Absent fifth fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009778","HPO_Synonym__c":"Hypoplastic thumb; Hypoplastic thumbs; Hypoplastic/small thumb; Short thumb; Short thumbs; Small thumbs; Thumb brachydactyly; Thumb hypoplasia","HPO_Name__c":"Short thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased height of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000348","HPO_Synonym__c":"High forehead","HPO_Name__c":"High forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79499","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001800","HPO_Synonym__c":"Underdeveloped toenails","HPO_Name__c":"Hypoplastic toenails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Dermatology","Otolaryngology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["autosomal dominant deafness with onychodystrophy syndrome"," autosomal dominant deafness-onychodystrophy syndrome"," autosomal dominant hearing loss-onychodystrophy syndrome"," autosomal dominant hearing loss, onychodystrophy syndrome"," ddod (dominant deafness onychodystrophy) syndrome"," ddod syndrome"," deafness-onychodystrophy syndrome, autosomal dominant"," deafness, congenital, with onychodystrophy, autosomal dominant"]}