{"Name":"Waardenburg syndrome type 1","DiseaseID__c":"GARD:0005519","id":5519,"encodedName":"waardenburg-syndrome-type-1","IsDeleted":false,"Disease_Name_Full__c":"Waardenburg syndrome type 1","Xref_IDs__c":"1010606009; C1847800; C75008; DOID:0110948; MEDGEN:376211; MONDO:0008670; NBK1531; OMIM:193500; ORPHA:894","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008670","Disease_Description__c":"A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.","GARD_Name__c":"Waardenburg syndrome type 1","GARD_Synonym__c":"waardenburg syndrome type i; waardenburg syndrome with dystopia canthorum; ws1","Curated_Disease_Description_Source__c":"GARD:0005519","Curated_Disease_Description__c":"Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin. Genetic changes in the PAX3 gene cause the symptoms observed in this condition. Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:894","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008670","ORPHANET_ID__c":"ORPHA:894","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de waardenburg tipo 1","Spanish_Description_Source__c":"ORPHA:894","Spanish_Description__c":"Es un subtipo del síndrome de Waardernburg (SW), caracterizado por sordera congénita y defectos menores en estructuras derivadas de la cresta neural, que resultan en anomalías en la pigmentación de ojos, cabello y piel, acompañadas de distopia cantorum.","Spanish_Disease_Name__c":"síndrome de waardenburg tipo 1","Spanish_GARD_Synonym__c":"síndrome de waardenburg tipo i; ws1","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":"Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin. Genetic changes in the PAX3 gene cause the symptoms observed in this condition. Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0005519","GARD_Synonym__c":"waardenburg syndrome type i; waardenburg syndrome with dystopia canthorum; ws1","Name":"Waardenburg syndrome type 1","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:894"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1847800"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005519","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1531","Source__c":"Gene Review","Xref__c":"NBK1531"},{"URL__c":"https://www.orpha.net/en/disease/detail/894","Source__c":"C1847800; MONDO:0008670; ORPHA:894","Xref__c":"ORPHA:894"},{"URL__c":"https://www.omim.org/entry/193500","Source__c":"C1847800; MONDO:0008670; ORPHA:894","Xref__c":"OMIM:193500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376211","Source__c":"C1847800","Xref__c":"MEDGEN:376211"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847800","Source__c":"C1847800","Xref__c":"C1847800"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C75008","Source__c":"C1847800; MONDO:0008670","Xref__c":"C75008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110948","Source__c":"MONDO:0008670","Xref__c":"DOID:0110948"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1010606009","Source__c":"C1847800","Xref__c":"1010606009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008670","Source__c":"GARD:0005519","Xref__c":"MONDO:0008670"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PAX3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A triangular depigmented region of white hairs located in the anterior midline of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002211","HPO_Synonym__c":"Poliosis of anterior hair; Poliosis of forelock hair; White part of hair above forehead","HPO_Name__c":"White forelock","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges through a defect of the skull or vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002435","HPO_Name__c":"Meningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008527","HPO_Synonym__c":"Bilateral congenital sensorineural deafness; Congenital neurosensory deafness; Congenital perceptive deafness; Congenital sensorineural deafness; Congenital sensorineural hearing loss; Hearing loss, congenital sensorineural","HPO_Name__c":"Congenital sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005599","HPO_Synonym__c":"Hair hypopigmentation; Loss of hair color","HPO_Name__c":"Hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased density/number and/or increased diameter of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000574","HPO_Synonym__c":"Bushy eyebrows; Dense eyebrow; Heavy eyebrows; Hypertrichosis of the eyebrow; Prominent eyebrows; Thick eyebrow; Thick eyebrows","HPO_Name__c":"Thick eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000204","HPO_Synonym__c":"Cheiloschisis of upper lip; Cleft upper lip; Harelip","HPO_Name__c":"Cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"White color (lack of pigmentation) of the eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002227","HPO_Synonym__c":"Blonde eyelashes; Depigmented eyelashes; Pale eyelashes; White eyelashes","HPO_Name__c":"White eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of tear production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000632","HPO_Synonym__c":"Abnormality of tear production","HPO_Name__c":"Lacrimation abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003196","HPO_Synonym__c":"Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose","HPO_Name__c":"Short nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thinned, deficient, or excessively arched ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000430","HPO_Synonym__c":"Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril","HPO_Name__c":"Underdeveloped nasal alae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Meeting of the medial eyebrows in the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000664","HPO_Synonym__c":"Monobrow; Synophris; Unibrow","HPO_Name__c":"Synophrys","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002251","HPO_Synonym__c":"Enlarged colon lacking nerve cells; Hirschsprung megacolon","HPO_Name__c":"Aganglionic megacolon","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"White color (lack of pigmentation) of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002226","HPO_Synonym__c":"Depigmented eyebrow; Hypopigmented eyebrow; Pale eyebrow; White eyebrow","HPO_Name__c":"White eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypopigmented hair that appears white.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011364","HPO_Synonym__c":"White hair","HPO_Name__c":"White hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002414","HPO_Name__c":"Spina bifida","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010804","HPO_Synonym__c":"Inverted V-shaped upper lip","HPO_Name__c":"Tented upper lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Development of gray hair at a younger than normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002216","HPO_Synonym__c":"Early graying; Premature graying; Premature graying of hair; Premature hair graying","HPO_Name__c":"Premature graying of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000912","HPO_Synonym__c":"Congenital, upward displacement of the scapula; High scapula; High shoulder blade; Sprengel deformity","HPO_Name__c":"Sprengel anomaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:894","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Otolaryngology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["waardenburg syndrome type i"," waardenburg syndrome with dystopia canthorum"," ws1"]}