-
| 1803 | Thoracomelic dysplasia
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| 1801 | Kyphomelic dysplasia
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| 1798 | Dysostosis, Stanescu type
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| 1799 | Familial developmental dysphasia
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| 1794 | Oculomaxillofacial dysostosis
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| 2128 | Isolated hemihyperplasia
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| 2130 | Hemimelia
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| 2136 | Hennekam syndrome
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| 2138 | 46,XX ovotesticular disorder of sex development
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| 2139 | Hernández-Aguirre Negrete syndrome
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| 2141 | Diaphragmatic defect-limb deficiency-skull defect syndrome
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| 2143 | Donnai-Barrow syndrome
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| 2145 | Craniosynostosis, Herrmann-Opitz type
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| 2149 | Nodular neuronal heterotopia
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| 2148 | Lissencephaly type 1 due to doublecortin gene mutation
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| 158048 | Hemophagocytic syndrome associated with an infection
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| 158057 | Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
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| 2108 | Hallermann-Streiff syndrome
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| 158061 | Macrophage activation syndrome
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| 2107 | Hall-Riggs syndrome
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| 2110 | Hallux varus-preaxial polysyndactyly syndrome
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| 2109 | Hallermann-Streiff-like syndrome
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| 2111 | Cystic hamartoma of lung and kidney
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| 158124 | Genetic dementia
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| 2115 | Harrod syndrome
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| 158266 | Huntington disease-like syndrome
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| 158300 | Rare genetic hematologic disease
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| 2114 | Hip dysplasia, Beukes type
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| 2994 | Short stature-craniofacial anomalies-genital hypoplasia syndrome
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| 2117 | Hartsfield syndrome
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| 2119 | HEC syndrome
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| 2124 | Cavernous hemangiomas of face-supraumbilical midline raphe syndrome
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| 2123 | Diffuse neonatal hemangiomatosis
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| 157997 | Benign cephalic histiocytosis
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| 2090 | GMS syndrome
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| 157991 | Generalized eruptive histiocytosis
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| 2091 | Multinodular goiter-cystic kidney-polydactyly syndrome
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| 2087 | Glomerulonephritis-sparse hair-telangiectasis syndrome
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| 157987 | Non-Langerhans cell histiocytosis
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| 158011 | Necrobiotic xanthogranuloma
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| 158008 | Papular xanthoma
-
| 376 | Gordon syndrome
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| 158003 | Xanthoma disseminatum
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| 2092 | Focal dermal hypoplasia
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| 158000 | Juvenile xanthogranuloma
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| 2098 | Acromesomelic dysplasia, Grebe type
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| 158025 | Hereditary progressive mucinous histiocytosis
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| 158022 | Progressive nodular histiocytosis
-
| 380 | Greig cephalopolysyndactyly syndrome
-
| 2095 | Gorlin-Chaudhry-Moss syndrome
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| 158019 | Indeterminate cell histiocytosis
-
| 158014 | Rosaï-Dorfman disease
-
| 2097 | Grant syndrome
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| 158041 | Secondary hemophagocytic lymphohistiocytosis
-
| 2101 | Grubben-de Cock-Borghgraef syndrome
-
| 158038 | Primary hemophagocytic lymphohistiocytosis
-
| 2104 | Dysmorphism-pectus carinatum-joint laxity syndrome
-
| 158032 | Hemophagocytic syndrome
-
| 158029 | Sea-blue histiocytosis
-
| 157843 | Trigeminal autonomic cephalalgia
-
| 2069 | Gastrocutaneous syndrome
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| 157846 | Neuroferritinopathy
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| 157832 | Craniorhiny
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| 2067 | GAPO syndrome
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| 157835 | Paroxysmal hemicrania
-
| 2065 | Galloway-Mowat syndrome
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| 2075 | Genitopalatocardiac syndrome
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| 2074 | Gemignani syndrome
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| 157941 | Huntington disease-like 1
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| 157850 | Pantothenate kinase-associated neurodegeneration
-
| 2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
-
| 157855 | HARP syndrome
-
| 157954 | ANE syndrome
-
| 157962 | Oculoauricular syndrome, Schorderet type
-
| 2078 | Geroderma osteodysplastica
-
| 157946 | Huntington disease-like 3
-
| 157949 | Combined immunodeficiency with granulomatosis
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| 2077 | German syndrome
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| 157973 | Congenital muscular dystrophy due to LMNA mutation
-
| 2085 | Glaucoma-sleep apnea syndrome
-
| 2084 | Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
-
| 2083 | Prominent glabella-microcephaly-hypogenitalism syndrome
-
| 157965 | Ehlers-Danlos syndrome, spondylocheirodysplastic type
-
| 2081 | Cerebral gigantism-jaw cysts syndrome
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| 2051 | Fraser-like syndrome
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| 2055 | Growth deficiency-brachydactyly-dysmorphism syndrome
-
| 1791 | Frontofacionasal dysplasia
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| 1826 | Frontometaphyseal dysplasia
-
| 2047 | Flynn-Aird syndrome
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| 2048 | Foix-Chavany-Marie syndrome
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| 2050 | Cole-Carpenter syndrome
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| 2060 | Fukuda-Miyanomae-Nakata syndrome
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| 2063 | Splenogonadal fusion-limb defects-micrognathia syndrome
-
| 2064 | Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
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| 250 | Frontonasal dysplasia
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| 2057 | Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
-
| 2059 | Fryns syndrome
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| 2026 | Gingival fibromatosis-hypertrichosis syndrome
-
| 2025 | Gingival fibromatosis-facial dysmorphism syndrome
-
| 2028 | Juvenile hyaline fibromatosis
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