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

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2932 Hypodermyasis 2933 Hypodontia of incisors and premolars 2934 Hypodontia, X-linked 2935 Hypofibrinogenemia, familial 2936 Hypoglycemia with deficiency of glycogen synthetase in the liver 2937 Hypogonadism cardiomyopathy 2938 Hypogonadism male mental retardation skeletal anomaly 2939 Hypogonadism mitral valve prolapse mental retardation 2940 Hypogonadism primary partial alopecia 2941 Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome 2942 Hypogonadism, isolated, hypogonadotropic 2943 Hypogonadotropic hypogonadism without anosmia, X-linked 2944 Hypohidrotic ectodermal dysplasia 2945 Hypohidrotic ectodermal dysplasia autosomal dominant 2946 Hypohidrotic ectodermal dysplasia autosomal recessive 2947 Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia 2948 Hypohidrotic ectodermal dysplasia with immune deficiency 2949 Hypokalemic periodic paralysis 2950 Hypoketonemic hypoglycemia 2951 Hypolipoproteinemia 2952 Hypomagnesemia 2, renal 2953 Hypomagnesemia primary 2954 Hypomandibular faciocranial dysostosis 2955 Hypomelanosis of Ito 2956 Hypomelanotic disorder 2957 Hypomelia mullerian duct anomalies 2958 Hypomyelination with atrophy of basal ganglia and cerebellum 2959 Hypoparathyroidism 2960 Hypoparathyroidism familial isolated 2961 Hypoparathyroidism short stature mental retardation 2962 Hypoparathyroidism X-linked 2963 Hypoparathyroidism-retardation-dysmorphism syndrome 2964 Hypopharyngeal cancer 2965 Hypophosphatasia 2966 Hypophosphatasia childhood 2967 Hypophosphatemic rickets 2968 Hypopituitarism 2969 Hypopituitarism micropenis cleft lip palate
2970 Hypopituitarism postaxial polydactyly 2971 Hypoplasia hepatic ductular 2972 Hypoplasia of the tibia with polydactyly 2973 Hypoplastic left heart syndrome 2974 Hypoplastic right heart syndrome 2975 Hypoplastic thumb mullerian aplasia 2976 Hypoplastic thumbs hydranencephaly 2977 Hyporeninemic hypoaldosteronism 2978 Hyposmia nasal hypoplasia hypogonadism 2979 Hypospadias familial 2980 Hypospadias mental retardation Goldblatt type 2981 Hypotelorism cleft palate hypospadias 2982 Hypothalamic dysfunction 2983 Hypothalamic hamartomas 2984 Hypothyroidism due to iodide transport defect 2985 Hypothyroidism postaxial polydactyly mental retardation 2986 Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 2987 Hypotonic sclerotic muscular dystrophy 2988 Hypotrichosis simplex 2989 Hypoxanthine guanine phosphoribosyltransferase deficiency 2990 I cell disease 2991 IBIDS syndrome 2992 ICF syndrome 2993 Ichthyosiform erythroderma, corneal involvement, deafness 2994 Ichthyosis alopecia eclabion ectropion mental retardation 2995 Ichthyosis and male hypogonadism 2996 Ichthyosis bullosa of Siemens 2997 Ichthyosis cheek eyebrow syndrome 2998 Ichthyosis congenita biliary atresia 2999 Ichthyosis deafness mental retardation skeletal anomaly 3000 Ichthyosis follicularis atrichia photophobia syndrome 3001 Ichthyosis hystrix gravior 3002 Ichthyosis hystrix, Curth Macklin type 3003 Ichthyosis lamellar 1 3004 Ichthyosis lamellar 2 3005 Ichthyosis lamellar 3 3006 Ichthyosis lamellar, autosomal dominant 3007 Ichthyosis linearis circumflexa 3008 Ichthyosis mental retardation dwarfism renal impairment
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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
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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 and 44: 1641 Cutis laxa, autosomal recessiv
Page 45 and 46: 1713 Deafness, autosomal dominant n
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: 2894 Hyperlipoproteinemia type 4 28
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
Page 99 and 100: 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
Page 105 and 106: 4055 Myasthenia gravis 4056 Myasthe
Page 107 and 108: 4134 Nance-Horan syndrome 4135 Narc
Page 109 and 110: 4213 Neuromyelitis optica spectrum
Page 111 and 112: 4293 Nystagmus, hereditary vertical
Page 113 and 114: 4372 Optic atrophy 2 4373 Optic atr
Page 115 and 116: 4451 Osteopetrosis autosomal domina
Page 117 and 118: 4531 Papular urticaria 4532 Paracoc
Page 119 and 120: 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
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5003 Radiation induced cancer 5004
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5079 Restless legs syndrome, suscep
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5157 Rhizomelic syndrome 5158 RHYNS
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5237 Sacral defect with anterior me
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5317 Seckel syndrome 5318 Secretory
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5391 Short stature, cranial hyperos
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5470 Spastic ataxia Charlevoix-Sagu
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5549 Spinocerebellar ataxia 27 5550
Page 145 and 146:
5625 Spondylometaphyseal dysplasia
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5704 Superior limbic keratoconjunct
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5781 T-cell immunodeficiency, conge
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5859 Thyroid cancer, childhood 5860
Page 153 and 154:
5939 Trichomalacia 5940 Trichomegal
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6017 Ulcerative proctitis 6018 Uler
Page 157 and 158:
6096 Verloove Vanhorick Brubakk syn
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6176 Weyers acrofacial dysostosis 6
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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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