Ear, Nose, and Throat Diseases | Page 2

240 diseases found in 3 pages

H Diseases

Hardikar syndrome Hemifacial hyperplasia strabismus Hemifacial microsomia Hereditary sensory and autonomic neuropathy type 1E Histiocytosis-lymphadenopathy plus syndrome Human HOXA1 Syndromes Hydrocephalus-cleft palate-joint contractures syndrome Hyperthermia induced defects

I Diseases

IgG4-related dacryoadenitis and sialadenitis Immunodysregulation, polyendocrinopathy and enteropathy X-linked

J Diseases

Jervell Lange-Nielsen syndrome Jones syndrome Juberg-Hayward syndrome

K Diseases

Kabuki syndrome Kapur Toriello syndrome Kearns-Sayre syndrome Keratoderma palmoplantar deafness KID syndrome Kniest dysplasia Knuckle pads, leuconychia and sensorineural deafness

L Diseases

Lacrimo-auriculo-dento-digital syndrome Lambert syndrome Larsen syndrome Laryngomalacia Larynx atresia LEOPARD syndrome

M Diseases

Macrosomia with lethal microphthalmia Mal de debarquement syndrome Malignant hyperthermia arthrogryposis torticollis Mandibulofacial dysostosis with microcephaly Marden Walker like syndrome Marden-Walker syndrome Maternal hyperphenylalaninemia Maternally inherited diabetes and deafness Maxillonasal dysplasia, Binder type Meckel syndrome Medeira-Dennis-Donnai syndrome Median cleft of upper lip with polyps of facial skin and nasal mucosa Ménière's disease Mesomelic dwarfism cleft palate camptodactyly Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Methimazole antenatal exposure Microbrachycephaly ptosis cleft lip Microcephaly deafness syndrome Miller syndrome Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes Mitochondrial myopathy with lactic acidosis Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones Mohr-Tranebjaerg syndrome Multiple familial trichoepithelioma 1 Multiple synostoses syndrome 1 Myoclonus cerebellar ataxia deafness

N Diseases

Nager acrofacial dysostosis Nathalie syndrome Nephropathy, deafness, and hyperparathyroidism Neurofibromatosis type 2 Norrie disease N syndrome

O Diseases

Odontotrichomelic syndrome Olivopontocerebellar atrophy deafness Omphalocele cleft palate syndrome lethal Orofaciodigital syndrome 1 Orofaciodigital syndrome 10 Orofaciodigital syndrome 11 Orofaciodigital syndrome 2 Orofaciodigital syndrome 3 Orofaciodigital syndrome 4 Orofaciodigital syndrome 5 Orofaciodigital syndrome 6 Orofaciodigital syndrome 8 Orofaciodigital syndrome 9 Oto-palato-digital syndrome type 1 Oto-palato-digital syndrome type 2

P Diseases

Palatopharyngeal incompetence Pallister W syndrome PARC syndrome Patulous Eustachian Tube Pendred syndrome Perrault syndrome Phenobarbital antenatal exposure Phocomelia ectrodactyly deafness sinus arrhythmia Pierre Robin sequence Popliteal pterygium syndrome Popliteal pterygium syndrome, Bartsocas-Papas type Progressive deafness with stapes fixation Proteus syndrome Proximal chromosome 18q deletion syndrome

R Diseases

Radial ray hypoplasia choanal atresia Ramos Arroyo Clark syndrome Rapadilino syndrome Reardon Wilson Cavanagh syndrome Recurrent respiratory papillomatosis Renal tubular acidosis with deafness Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome RFT1-CDG (CDG-In) Riboflavin transporter deficiency Richards-Rundle syndrome Richieri Costa Pereira syndrome Roberts syndrome

S Diseases

Say syndrome

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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