Rare Diseases

Rare Diseases

The authors established this rare disease list in December of 2021 for the Power of Being Counted Report. Please note that the authors created this list at a single point in time. As the Power of Being Counted Report states, the complete list of rare diseases will continue to grow over time.

Condition ID Condition Name Condition URL
wdt_ID Condition ID Condition Name Condition URL
1 OMIM:100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT https://omim.org/entry/100050
2 OMIM:100200 ABDUCENS PALSY https://omim.org/entry/100200
3 OMIM:100600 ACANTHOSIS NIGRICANS https://omim.org/entry/100600
4 OMIM:100700 ACHARD SYNDROME https://omim.org/entry/100700
5 OMIM:100820 ACHOO SYNDROME https://omim.org/entry/100820
6 OMIM:101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III https://omim.org/entry/101120
7 OMIM:101800 ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE https://omim.org/entry/101800
8 OMIM:101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT https://omim.org/entry/101840
9 OMIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA https://omim.org/entry/102100
10 OMIM:102400 ACROOSTEOLYSIS https://omim.org/entry/102400
11 OMIM:102530 SPERMATOGENIC FAILURE 6 https://omim.org/entry/102530
12 OMIM:102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO https://omim.org/entry/102800
13 OMIM:103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL https://omim.org/entry/103230
14 OMIM:103400 AINHUM https://omim.org/entry/103400
15 OMIM:103420 ALACRIMA, CONGENITAL, AUTOSOMAL DOMINANT https://omim.org/entry/103420
16 OMIM:103920 ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL https://omim.org/entry/103920
17 OMIM:104110 ALOPECIA, FAMILIAL FOCAL https://omim.org/entry/104110
18 OMIM:104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 https://omim.org/entry/104290
19 OMIM:104310 ALZHEIMER DISEASE 2 https://omim.org/entry/104310
20 OMIM:104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM https://omim.org/entry/104350
21 OMIM:104400 AMELIA AND TERMINAL TRANSVERSE HEMIMELIA https://omim.org/entry/104400
22 OMIM:104500 AMELOGENESIS IMPERFECTA, TYPE IB https://omim.org/entry/104500
23 OMIM:104530 AMELOGENESIS IMPERFECTA, TYPE IA https://omim.org/entry/104530
24 OMIM:104600 AMENORRHEA-GALACTORRHEA SYNDROME https://omim.org/entry/104600
25 OMIM:105300 AMYOTROPHIC DYSTONIC PARAPLEGIA https://omim.org/entry/105300
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