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

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2616 Halal Setton Wang syndrome 2617 Halal syndrome 2618 Hall Riggs mental retardation syndrome 2619 Hallermann-Streiff syndrome 2620 Halo nevi 2621 Hamanishi Ueba Tsuji syndrome 2622 Hand and foot deformity with flat facies 2623 Hand foot uterus syndrome 2624 Hand-Schuller-Christian disease 2625 Hanhart syndrome 2626 Hansen's disease 2627 Hantavirus pulmonary syndrome 2628 Hard skin syndrome Parana type 2629 Hardikar syndrome 2630 Harding ataxia 2631 Harlequin ichthyosis 2632 Harlequin syndrome 2633 Harrod Doman Keele syndrome 2634 Hartnup disease 2635 Hashimoto-Pritzker syndrome 2636 Hashimoto's encephalitis 2637 Hawkinsinuria 2638 Hay-Wells syndrome 2639 Heart defect, tongue hamartoma and polysyndactyly 2640 Heart tumor 2641 Heart-hand syndrome, Slovenian type 2642 Heart-hand syndrome,Spanish type 2643 Heavy metal poisoning 2644 HEC syndrome 2645 Heinz body anemias 2646 HELLP syndrome 2647 Helminthiasis 2648 Hemangioblastoma 2649 Hemangioendothelioma 2650 Hemangioma thrombocytopenia syndrome 2651 Hemangiomatosis, familial pulmonary capillary 2652 Hemangiopericytoma 2653 Hemeralopia, congenital essential 2654 Hemeralopia, familial 2655 Hemi 3 syndrome
2656 Hemicrania continua 2657 Hemifacial atrophy agenesis of the caudate nucleus 2658 Hemifacial hyperplasia strabismus 2659 Hemifacial microsomia 2660 Hemifacial myohyperplasia 2661 Hemihypertrophy intestinal web corneal opacity 2662 Hemimegalencephaly 2663 Hemiplegia 2664 Hemiplegic migraine 2665 Hemochromatosis type 2 2666 Hemochromatosis type 3 2667 Hemochromatosis type 4 2668 Hemoglobin C disease 2669 Hemoglobin E disease 2670 Hemoglobin SC disease 2671 Hemoglobin sickle-beta thalassemia 2672 Hemoglobin Zurich 2673 Hemoglobinemia 2674 Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities 2675 Hemolytic uremic syndrome 2676 Hemolytic uremic syndrome, atypical, childhood 2677 Hemophagocytic lymphohistiocytosis 2678 Hemophagocytic lymphohistiocytosis, familial, 2 2679 Hemophagocytic lymphohistiocytosis, familial, 3 2680 Hemophagocytic lymphohistiocytosis, familial, 4 2681 Hemophagocytic reticulosis 2682 Hemophilia 2683 Hemophilia A, acquired 2684 Hemophilia A, congenital 2685 Hemophilia B 2686 Hemophilic arthropathy 2687 Hemorrhagic fever 2688 Hemorrhagic proctocolitis 2689 Hemorrhagic shock and encephalopathy syndrome 2690 Hemosiderosis 2691 Hennekam syndrome 2692 Hennekam Van der Horst syndrome 2693 Henoch-Schonlein purpura 2694 Hepadnavirus infection
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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
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 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: 2577 Gray platelet syndrome 2578 Gr
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
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
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4611 Pentosuria 4612 Penttinen-Aula
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4688 Pilotto syndrome 4689 Pineal p
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4766 Pontocerebellar hypoplasia typ
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4844 Primary pigmented nodular adre
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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
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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
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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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