Disease Directory

Explore 10,888+ rare diseases with trusted, clear information

Search by:Disease•Gene•Symptom•Treatment•PAG•OMIM/Orphanet ID

Commonly searched:Cystic Fibrosis Duchenne Huntington's ALS Sickle Cell

Discover by:

Browse by category:

Expert-Verified Content

Medical professionals review and validate information.

Named Accountability

Expert Stewards stand behind their work.

Community Driven

Patients and families contribute real-world insights.

Showing 4,101-4,120 of 15,964 diseases

autosomal recessive nonsyndromic hearing loss 12

MONDO:0011067

Rare

Has Support Group

Autosomal recessive nonsyndromic hearing loss 12 is a genetic condition that affects hearing. It is caused by changes in the CDH23 gene and is inherit...

CDH23

autosomal recessive nonsyndromic hearing loss 124

MONDO:0968981

Rare

Autosomal recessive nonsyndromic hearing loss 124 is associated with variants in the PKHD1L1 gene. This condition is inherited in an autosomal recessi...

PKHD1L1

autosomal recessive nonsyndromic hearing loss 13

MONDO:0011286

Rare

Autosomal recessive nonsyndromic hearing loss 13 (DFNB13) is characterized by hearing impairment resulting from genetic variations in the chromosome r...

autosomal recessive nonsyndromic hearing loss 14

MONDO:0011360

Rare

Autosomal recessive nonsyndromic hearing loss 14 (DFNB14) is a form of hearing loss that occurs due to genetic variations, specifically in the chromos...

autosomal recessive nonsyndromic hearing loss 15

MONDO:0011160

Rare

Autosomal recessive nonsyndromic hearing loss 15 is a hereditary condition characterized by sensorineural hearing impairment that is evident from infa...

GIPC3

autosomal recessive nonsyndromic hearing loss 16

MONDO:0011364

Rare

Autosomal recessive nonsyndromic hearing loss 16 is a condition characterized by sensorineural hearing impairment that is present from an early age. I...

STRC

autosomal recessive nonsyndromic hearing loss 17

MONDO:0011279

Rare

Autosomal recessive nonsyndromic hearing loss 17 (DFNB17) is characterized by hearing impairment without associated systemic features, resulting from...

autosomal recessive nonsyndromic hearing loss 18A

MONDO:0011192

Rare

Autosomal recessive nonsyndromic hearing loss 18A is caused by mutations in the USH1C gene. This condition is characterized by hearing loss that is no...

USH1C

autosomal recessive nonsyndromic hearing loss 18B

MONDO:0013985

Rare

Autosomal recessive nonsyndromic hearing loss 18B is a genetic condition that primarily affects auditory function. It is caused by mutations in the OT...

OTOG

autosomal recessive nonsyndromic hearing loss 1A

MONDO:0009076

Rare

Autosomal recessive nonsyndromic hearing loss 1A is a congenital disorder affecting the auditory system, typically resulting in profound sensorineural...

GJB2GJB3GJB6

autosomal recessive nonsyndromic hearing loss 1B

MONDO:0012977

Rare

Autosomal recessive nonsyndromic hearing loss 1B is a condition that primarily affects the auditory system, leading to difficulties with hearing that...

GJB6

autosomal recessive nonsyndromic hearing loss 2

MONDO:0010807

Rare

Autosomal recessive nonsyndromic hearing loss 2 (DFNB2) is caused by mutations in the MYO7A gene. This condition is characterized by hearing loss that...

MYO7A

autosomal recessive nonsyndromic hearing loss 20

MONDO:0011392

Rare

Autosomal recessive nonsyndromic hearing loss 20 (DFNB20) is a type of hearing loss characterized by its inheritance pattern, which is autosomal reces...

autosomal recessive nonsyndromic hearing loss 21

MONDO:0011351

Rare

Autosomal recessive nonsyndromic hearing loss 21 is caused by mutations in the TECTA gene. This condition is characterized by hearing loss that is not...

TECTA

autosomal recessive nonsyndromic hearing loss 22

MONDO:0011762

Rare

Autosomal recessive nonsyndromic hearing loss 22 is a genetic condition caused by mutations in the OTOA gene. This condition is characterized by heari...

OTOA

autosomal recessive nonsyndromic hearing loss 23

MONDO:0012293

Rare

Autosomal recessive nonsyndromic hearing loss 23 is a condition primarily affecting the auditory system, characterized by sensorineural hearing impair...

PCDH15

autosomal recessive nonsyndromic hearing loss 24

MONDO:0012602

Rare

Autosomal recessive nonsyndromic hearing loss 24 (DFNB24) is caused by mutations in the RDX gene. This condition is characterized by hearing loss that...

RDX

autosomal recessive nonsyndromic hearing loss 25

MONDO:0013210

Rare

Autosomal recessive nonsyndromic hearing loss 25 is a condition characterized primarily by hearing impairment and may include a gradual progression of...

GRXCR1

autosomal recessive nonsyndromic hearing loss 26

MONDO:0011553

Rare

Autosomal recessive nonsyndromic hearing loss 26, also known as DFNB26, is caused by variations in the GAB1 gene located on chromosome 4q31. This cond...

GAB1

autosomal recessive nonsyndromic hearing loss 27

MONDO:0011602

Rare

Autosomal recessive nonsyndromic hearing loss 27 (DFNB27) is characterized by hearing impairment due to variations in the chromosome region 2q23-q31....

Page 206 of 799

Don't see your condition represented accurately?

Contribute your knowledge to help others in your community. Your experience matters and can help patients, caregivers, and healthcare providers.