Table 4: List of Rare Diseases and Related Terms as per US ...

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1679 Dandy-Walker malformation with mental retardation basal ganglia disease and seizures 1680 Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy 1681 Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia 1682 Dandy-Walker malformation with postaxial polydactyly 1683 Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus 1684 Daneman Davy Mancer syndrome 1685 Danon disease 1686 Darier disease 1687 Dauwerse-Peters syndrome 1688 Davenport Donlan syndrome 1689 Davis Lafer syndrome 1690 D-bifunctional protein deficiency 1691 De Barsy syndrome 1692 De Quervain's disease 1693 De Sanctis-Cacchione syndrome 1694 Deafness conductive ptosis skeletal anomalies 1695 Deafness conductive stapedial ear malformation facial palsy 1696 Deafness craniofacial syndrome 1697 Deafness enamel hypoplasia nail defects 1698 Deafness goiter stippled epiphyses 1699 Deafness hyperuricemia neurologic ataxia 1700 Deafness hypogonadism syndrome 1701 Deafness hypospadias metacarpal and metatarsal syndrome 1702 Deafness mesenteric diverticula of small bowel neuropathy 1703 Deafness mixed with perilymphatic Gusher, X-linked 1704 Deafness nephritis anorectal malformation 1705 Deafness oligodontia syndrome 1706 Deafness onychodystrophy dominant form 1707 Deafness onychodystrophy osteodystrophy and mental retardation syndrome 1708 Deafness peripheral neuropathy arterial disease 1709 Deafness progressive cataract autosomal dominant 1710 Deafness vitiligo achalasia 1711 Deafness with labyrinthine aplasia microtia and microdontia (LAMM) 1712 Deafness X-linked, DFN3
1713 Deafness, autosomal dominant nonsyndromic sensorineural 17 1714 Deafness, autosomal dominant nonsyndromic sensorineural 22 1715 Deafness, autosomal dominant nonsyndromic sensorineural 23 1716 Deafness, autosomal dominant nonsyndromic sensorineural 24 1717 Deafness, autosomal dominant nonsyndromic sensorineural 3 1718 Deafness, autosomal dominant nonsyndromic sensorineural 53 1719 Deafness, autosomal recessive 51 1720 Deafness, autosomal recessive 55 1721 Deafness, epiphyseal dysplasia, short stature 1722 Deafness, isolated, due to mitochondrial transmission 1723 Deafness, neurosensory nonsyndromic recessive, DFN 1724 Deafness, neurosensory, autosomal recessive 47 1725 Deafness, progressive with stapes fixation 1726 Deafness, X-linked 2 1727 Deafness, X-linked, DFN 1728 Deal Barratt Dillon syndrome 1729 Defective apolipoprotein B-100 1730 Deficiency of interleukin-1 receptor antagonist 1731 Degos disease 1732 Degos 'en cocarde' erythrokeratoderma 1733 Dehydrated hereditary stomatocytosis 1734 Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema 1735 Delayed membranous cranial ossification 1736 Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 1737 Delta-sarcoglycanopathy 1738 Dementia familial British 1739 Dementia, familial Danish 1740 Demodicidosis 1741 Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 1742 Dengue fever 1743 Dennis Fairhurst Moore syndrome 1744 Dens in dente and palatal invaginations 1745 Dent disease 1 1746 Dent disease 2 1747 Dentatorubral-pallidoluysian atrophy 1748 Dentin dysplasia sclerotic bones 1749 Dentin dysplasia, coronal 1750 Dentin dysplasia, type 1
Page 1 and 2: Table 4: List of Rare Diseases and
Page 3 and 4: 77 Acrodysplasia with ossification
Page 5 and 6: 156 Adenosine deaminase deficiency
Page 7 and 8: 235 Alopecia mental retardation syn
Page 9 and 10: 313 Anal sphincter dysplasia 314 An
Page 11 and 12: 389 Anterior segment mesenchymal dy
Page 13 and 14: 467 Arthrogryposis renal dysfunctio
Page 15 and 16: 542 Autosomal recessive neuronal ce
Page 17 and 18: 621 Becker muscular dystrophy 622 B
Page 19 and 20: 699 Blastoma 700 Blastomycosis 701
Page 21 and 22: 777 Braddock Jones Superneau syndro
Page 23 and 24: 857 Camurati-Engelmann disease 858
Page 25 and 26: 937 Cataract, autosomal recessive c
Page 27 and 28: 1012 Ceroid lipofuscinosis neuronal
Page 29 and 30: 1090 Chitayat Meunier Hodgkinson sy
Page 31 and 32: 1170 Chromosome 16p deletion 1171 C
Page 33 and 34: 1249 Chronic atypical neutrophilic
Page 35 and 36: 1325 Cochleosaccular degeneration o
Page 37 and 38: 1404 Congenital aplastic anemia 140
Page 39 and 40: 1482 Congenital nonprogressive myop
Page 41 and 42: 1561 Cranioacrofacial syndrome 1562
Page 43: 1641 Cutis laxa, autosomal recessiv
Page 47 and 48: 1790 Diamond-Blackfan anemia 2 1791
Page 49 and 50: 1868 Duane syndrome 1869 Duane synd
Page 51 and 52: 1946 EAF 1947 Eagle syndrome 1948 E
Page 53 and 54: 2024 Endocardial fibroelastosis 202
Page 55 and 56: 2102 Erythropoietic uroporphyria as
Page 57 and 58: 2181 Familial exudative vitreoretin
Page 59 and 60: 2260 Fetal brain disruption sequenc
Page 61 and 62: 2338 Frank Ter Haar syndrome 2339 F
Page 63 and 64: 2418 Gay Feinmesser Cohen syndrome
Page 65 and 66: 2497 Glucocorticoid resistance 2498
Page 67 and 68: 2577 Gray platelet syndrome 2578 Gr
Page 69 and 70: 2656 Hemicrania continua 2657 Hemif
Page 71 and 72: 2734 Hereditary nodular heterotopia
Page 73 and 74: 2814 Horner's syndrome 2815 Horsesh
Page 75 and 76: 2894 Hyperlipoproteinemia type 4 28
Page 77 and 78: 2970 Hypopituitarism postaxial poly
Page 79 and 80: 3045 Immune dysfunction with T-cell
Page 81 and 82: 3121 Intravascular papillary endoth
Page 83 and 84: 3201 Juvenile Scleroderma 3202 Juve
Page 85 and 86: 3281 Kohlschutter Tonz syndrome 328
Page 87 and 88: 3360 Lattice corneal dystrophy type
Page 89 and 90: hypogammaglobulinema 3439 Leukoence
Page 91 and 92: 3517 Long QT syndrome 10 3518 Long
Page 93 and 94: 3594 Mal de debarquement 3595 Malak
Page 95 and 96:
3672 Maturity-onset diabetes of the
Page 97 and 98:
3750 Mental retardation arachnodact
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3824 Methylmalonic acidemia with ho
Page 101 and 102:
3901 Mikulicz disease 3902 Miles-Ca
Page 103 and 104:
3977 Muckle-Wells syndrome 3978 Muc
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4055 Myasthenia gravis 4056 Myasthe
Page 107 and 108:
4134 Nance-Horan syndrome 4135 Narc
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4213 Neuromyelitis optica spectrum
Page 111 and 112:
4293 Nystagmus, hereditary vertical
Page 113 and 114:
4372 Optic atrophy 2 4373 Optic atr
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4451 Osteopetrosis autosomal domina
Page 117 and 118:
4531 Papular urticaria 4532 Paracoc
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4611 Pentosuria 4612 Penttinen-Aula
Page 121 and 122:
4688 Pilotto syndrome 4689 Pineal p
Page 123 and 124:
4766 Pontocerebellar hypoplasia typ
Page 125 and 126:
4844 Primary pigmented nodular adre
Page 127 and 128:
4923 Pseudopelade of Brocq 4924 Pse
Page 129 and 130:
5003 Radiation induced cancer 5004
Page 131 and 132:
5079 Restless legs syndrome, suscep
Page 133 and 134:
5157 Rhizomelic syndrome 5158 RHYNS
Page 135 and 136:
5237 Sacral defect with anterior me
Page 137 and 138:
5317 Seckel syndrome 5318 Secretory
Page 139 and 140:
5391 Short stature, cranial hyperos
Page 141 and 142:
5470 Spastic ataxia Charlevoix-Sagu
Page 143 and 144:
5549 Spinocerebellar ataxia 27 5550
Page 145 and 146:
5625 Spondylometaphyseal dysplasia
Page 147 and 148:
5704 Superior limbic keratoconjunct
Page 149 and 150:
5781 T-cell immunodeficiency, conge
Page 151 and 152:
5859 Thyroid cancer, childhood 5860
Page 153 and 154:
5939 Trichomalacia 5940 Trichomegal
Page 155 and 156:
6017 Ulcerative proctitis 6018 Uler
Page 157 and 158:
6096 Verloove Vanhorick Brubakk syn
Page 159 and 160:
6176 Weyers acrofacial dysostosis 6
Page 161 and 162:
6253 X-linked mental retardation Gu
Page 163:
Note: 6333 4-hydroxyphenylacetic ac
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Table 4: List of Rare Diseases and Related Terms as per US ...

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