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Idiopathic multicentric Castleman's familial Thrombotic adult AML Cranioacrofacial syndrome Hereditary ataxia disease thrombocytopenic purpura AML adult Craniocarpotarsal dystrophy Hereditary branchial arch defects Multicentric CastlemanÆs Disease Upshaw factor deficiency of Whistling face-windmill vane Plasmablastic multicentric Thrombotic thrombocytopenic adult Acute myeloid leukemia hand syndrome Aksu von Stockhausen syndrome Castleman disease purpura familial adult Brain tumor Freeman-Sheldon syndrome Hereditary carnitine deficiency Hereditary cerebellar ataxia Multicentric reticulohistiocytosis Microangiopathic hemolytic anemia adult Cerebral astrocytoma Craniocele syndrome of early onset MRH Multifocal acquired demyelinating MAHA Adult GM1 gangliosidosis Bifid Cranium Hereditary deafness sensory and motor neuropathy TTP congenital Beta-galactosidase deficiency Cranium Bifidum hereditary Dysphasic dementia hereditary dysphasic disinhibition Multifocal choroiditis familial Thrombotic microangiopathy Gangliosidosis GM1 type 3 Cranial Meningoencephalocele Dementia Multifocal heterotopia SCHW Dementia hereditary dysphasic Multifocal motor neuropathy with Type 3 (adult) GM1 gangliosidosis Cephalocele disinhibition ubiquitin-positive Frontotemporal conduction block Schwannoma Adult idiopathic neutropenia Craniodiaphyseal dysplasia dementia MMN-CB Schwartz Jampel syndrome Adult intracranial ependymoma Craniodiaphyseal dysplasia (subtype) dominant Dominantly inherited HDDD Multifocal osteomyelitis chronic Schwartz Jampel Aberfeld syndrome Childhood ependymoma (subtype) craniodiaphyseal dysplasia Hereditary elliptocytosis Chronic multifocal osteomyelitis SJA syndrome Schaefer Stein Oshman Spondylo-epimetaphyseal dysplasia Familial ependymoma (subtype) syndrome Hereditary endotheliopathy CRMO with myotonia dominant Craniodiaphyseal Chronic recurrent multifocal Ependymoma Adult low grade infiltrative dysplasia HERNS syndrome osteomyelitis Myotonic chondrodystrophy supratentorial Astrocytoma Craniodigital syndrome mental Multifocal ventricular premature Oligodendroglioma retardation Craniodigital syndrome with hereditary Fructosemia beats Schwartz Jampel syndrome neonatal Adult malignant mesothelioma mental retardation Craniodigital syndrome-mental Hereditary galactokinase deficiency Multi-infarct dementia SJS2 Adult onset angioedema retardation Scott type Galactokinase deficiency Dementia multi-infarct Schwartz Jampel type 2 syndrome Scott type Craniodigital Stuve-Wiedemann/Schwartz-Jampel Adult onset Still's disease syndrome-mental retardation Scott Bryant Graham GALK deficiency Multiminicore disease type 2 syndrome Wissler-Fanconi syndrome syndrome Galactosemia 2 Multiminicore myopathy Stuve-Wiedemann syndrome Scott craniodigital syndrome Multiminicore myopathy antenatal AOSD with mental retardation hereditary Glaucoma onset with arthrogryposis Schwartz newark syndrome Craniofacial and skeletal antenatal onset with arthrogryposis Adult onset Still disease defects Hereditary hearing disorder Minicore myopathy Melanocytosis myelomeningocele antenatal onset with arthrogryposis Schweitzer Kemink Graham adult Oropharyngeal cancer Craniofacial conodysplasia Hereditary hearing loss Multiminicore myopathy syndrome Thickened earlobes with conductive Craniofacial deafness hand hereditary hemorrhagic type 1 antenatal onset with arthrogryposis deafness from incus-stapes Cancer of the oropharynx syndrome Craniofacial dysostosis Telangiectasia Multicore myopathy abnormalities arthrogryposis progeroid Hereditary hemorrhagic Multicore myopathy antenatal adult Pancreatic cancer appearence telangiectasia onset with arthrogryposis SCID atypical Van Biervliet Hendrickx Van Multinodular goiter cystic kidney Adult paranasal sinus cancer Ertbruggen syndrome ORW disease polydactyly atypical SCID atypical Severe combined adult Parathyroid neoplasm Craniofacial dyssynostosis Craniosynostosis-craniofacial Osler-Rendu-Weber Disease Multiocre myopathy immunodeficiency adult Parathyroid cancer dysostosis syndrome Osler-Weber-Rendu syndrome multiple 1 Epiphyseal dysplasia SCKL1 Craniofacial dyssynostosis and Telangiectasia hereditary Parathyroid carcinoma adult short stature hemorrhagic type 1 EDM1 Multiple epiphyseal dysplasia Seckel syndrome 1 Craniofaciocardioskeletal cartilage oligomeric matrix protein Parathyroid neoplasm adult syndrome Hereditary hyperuricemia related Seckel-type dwarfism Craniofaciocervical hereditary juvenile type 1B COMP-related Multiple epiphyseal adult Parathyroid carcinoma osteoglyphic dysplasia Glaucoma dysplasia Bird-headed dwarfism Craniofrontonasal syndrome Multiple epiphyseal dysplasia adult Penile cancer Teebi type Hereditary keratoacanthoma COMP-related cartilage oligomeric matrix protein Microcephalic primordial dwarfism 1 Craniolenticulosutural related Multiple epiphyseal Cancer penis dysplasia Multiple keratoacanthoma dysplasia Multiple Angiomas and SCKL adult Pineoblastoma Boyadjiev-Jabs syndrome Hereditary lymphedema Endochondromas Nanocephalic dwarfism Craniometadiaphyseal Enchondromatosis with Multiple adult Pituitary tumors dysplasia Nonne-Milroy disease Cavernous Hemangiomas SCLC Craniometaphyseal dysplasia Hemangiomatosis adult Pituitary carcinoma Jackson type autosomal dominant Early onset lymphedema Chondrodystrophica Scleredema diabeticorum Pituitary cancer adult Craniometaphyseal dysplasia Congenital hereditary lymphedema Kast Syndrome Dyschondrodysplasia with Scleredema adultorum adult Pituitary cancer Craniomicromelic syndrome Hereditary lymphedema 1 Hemangiomas Buschke's scleredema Pituitary carcinoma adult Craniopharyngioma Primary congenital lymphedema multiple anomalies Scleredema adult Salivary gland cancer Cranio Hereditary macrothrombocytopenia Multiple basal cell carcinoma Scleredema adultorum of Buschke Scleredema diabeticorum of SGTs Craniorachischisis chmt Chronic isolated hereditary Multiple cafe-au-lait spots Buschke Salivary gland tumors Craniostenosis macrothrombocytopenia multiple Cafe au lait spots Scleroatrophic syndrome Hereditary microcornea glaucoma Sclerocornea syndactyly ambiguous Cancer of the salivary gland Craniostenosis cataract Craniostenosis with congenital and absent frontal sinuses Multiple carboxylase deficiency genitalia heart disease mental glaucoma and absent frontal sinuses adult Small cell lung cancer retardation Microcornea multiple congenital abnormalities Scleroderma Craniosynostosis alopecia glaucoma and absent frontal sinuses adult SCLC brain defect Hereditary microcornea Sacral hemangiomas Scleromyxedema Craniosynostosis Hereditary motor and sensory SCLC adult arthrogryposis cleft palate neuropathy 5 Peroneal muscular atrophy with multiple congenital anomalies Sclerosing dysplasia of bone Craniosynostosis autosomal pyramidal features autosomal adult Small intestine cancer dominant dominant autosomal dominant Charcot-Marie- MCAs Sclerosing lymphocytic lobulitis Craniosynostosis cleft lip Tooth disease with pyramidal ADULT syndrome palate arthrogryposis features Cooper-Jabs syndrome Lymphocytic mastopathy Pigment anomaly ectrodactyly Craniosynostosis contractures hypodontia cleft HMSN 5 Aural atresia Diabetic fibrous mastopathy Propping Zerres syndrome Craniosynostosis exostoses CMT with pyramidal features Multiple congenital anomalies Diabetic mastopathy 185

nevus epibulbar dermoid mental retardation growth failure cleft lip palate Multiple congenital anomalies autosomal dominant Peroneal severe psychomotor retardation Craniosynostosis fibular muscular atrophy with pyramidal and symmetrical circumferential Adult T-cell leukaemia/lymphoma aplasia features skin creases of arms and legs severe psychomotor retardation and symmetrical circumferential DFBD adult type Neuronal ceroid Craniosynostosis Fontaine Hereditary motor and sensory skin creases of arms and legs lipofuscinosis type neuropathy LOM type Multiple congenital anomalies Diabetic fibrous breast disease Craniosynostosis herrmann Sclerosing lymphocytic lobulitis of Amaurotic idiocy adult type opitz type Craniosynostosis Maroteaux CMT4D Elliott Ludman Teebi syndrome the breast CLN4 Fonfria type NMSL Multiple congenital contractures Lymphocytic mastitis Craniosynostosis mental Type 4D Charcot-Marie-Tooth Kufs disease autosomal recessive retardation clefting syndrome Disease Multiple endocrine abnormalities Sclerosing Mesenteritis Craniosynostosis mental LOM type Hereditary motor and adult type Amaurotic idiocy retardation heart defects sensory neuropathy adenylyl cyclase dysfunction SCN Neuronal ceroid lipofuscinosis adult Craniosynostosis Philadelphia hereditary motor and sensory LOM Multiple endocrine neoplasia type type type type Neuropathy 3 (formerly) IGA Craniosynostosis radial aplasia Charcot-Marie-Tooth Disease Type Kufs disease syndrome 4D HEREDITARY MOTOR AND Mucosal neuroma syndrome Kostmann disease Craniosynostosis with radial SENSORY NEUROPATHY neuronal 4 Ceroid lipofuscinosis defects PROXIMAL TYPE PROXIMAL TYPE HEREDITARY MOTOR AND SENSORY MEN2B kostmann syndrome Adult-onset citrullinemia type II Baller-Gerold syndrome NEUROPATHY Wagenmann-froboese syndrome type 3 (formerly) Multiple Severe congenital neutropenia Adult-onset citrullinemia type 2 bgs HMSNO endocrine neoplasia infantile genetic Agranulocytosis Craniosynostosis radial aplasia hereditary motor and sensory type 2B Multiple endocrine Autosomal dominant or sporadic Adult-onset spinal muscular atrophy type Imaizumi Okinawa type Neuropathy Hereditary motor and sensory neoplasia congenital neutropenia Muscular atrophy adult spinal Imaizumi Kuroki syndrome Craniosynostosis synostoses neuropathy type 3 Multiple epiphyseal dysplasia 5 KD Spinal muscular atrophy 4 hypertensive nephropathy Hypertrophic neuropathy of infancy multiple 5 Epiphyseal dysplasia Agranulocytosis infantile genetic Hereditary motor and sensory MATN3 related Multiple epiphyseal scoliosis and retinitis pigmentosa Adult spinal muscular atrophy Craniosynostosis Warman type neuropathy type 4 dysplasia Rhizomelic dysplasia Craniosynostosis-radial aplasia Multiple epiphyseal dysplasia Advanced sleep phase syndrome syndrome Hereditary mucoepithelial dysplasia MATN3 related Scoliosis as part of NF Multiple epiphyseal dysplasia with Scoliosis congenital with unilateral Aerobic actinomyces infection Craniotubular syndrome Urban Schosser Spohn syndrome clubfoot unsegmented bar Hereditary multiple diaphyseal congenital with unilateral AFA syndrome Tubular dysplasia sclerosis multiple 4 Epiphyseal dysplasia unsegmented bar Scoliosis Spondylocarpotarsal synostosis Thick lips and oral mucosa Crawfurd syndrome Diaphyseal sclerosis multiple Multiple epiphyseal dysplasia 4 syndrome Acromegaloid facial appearance Autosomal recessive multiple syndrome CRBM Ribbing disease epiphyseal dysplasia Multiple epiphyseal dysplasia Synspondylism congenital Afibrinogenemia Cherubism multiple Diaphyseal sclerosis autosomal recessive Multiple epiphyseal dysplasia with Spondylocarpotarsal synostosis Congenital afibrinogenaemia Creatine deficiency Hereditary multiple trichodiscomas bilayered patellae Vertebral fusion with carpal coalition Small benign fibrovascular tumor of Multiple epiphyseal dysplasia with Afibrinogenemia congenital Creatine transporter deficiency the dermal part of the hair disk double-layered patella congenital Synspondylism Scoliosis with unilateral African sleeping sickness Creeping disease Familial multiple trichodiscomas multiple Exostoses unsegmented bar Agammaglobulinemia autosomal Hereditary myopathy with recessive non-Bruton type Cretinism athyreotic intranuclear filamentous Multiple fibrofolliculoma familial S-cone Monochromatism Agammaglobulinemia Creutzfeldt Jakob disease Hereditary nodular heterotopia Multiple hamartoma syndrome Achromatopsia incomplete Agammaglobulinemia due to early Hereditary nonpolyposis colorectal proB cell defect Acquired CJD (subtype) cancer Cowden's disease Scott syndrome autosomal recessive Colorectal cancer hereditary Agammaglobulinemia Sporadic CJD (subtype) nonpolyposis Cowden disease SCPD Agammaglobulinemia BTK Creutzfeldt Jacob disease HNPCC Lynch syndrome I (site-specific MHAM sneddonwilkinson disease BTK Agammaglobulinemia Hereditary CJD (subtype) colonic cancer) - subtype Hereditary nonpolyposis colorectal cowden's syndrome Pustulosis subcornealis Bruton type agammaglobulinemia Cribriform carcinoma neoplasms Multiple hereditary exostoses Subcorneal pustular dermatosis Hereditary nonpolyposis colon Multiple joint dislocations B cell progenitor kinase Adenocystic carcinoma cancer Lynch syndrome II (colonic cancer in metaphyseal dysplasia SDCP Agammaglobulinemia Bruton tyrosine association with other forms of kinase Adenoid cystic carcinoma cancer) - subtype multiple malformations X-linked spastic diplegic Cerebral palsy Bruton tyrosine kinase hereditary nonpolyposis type 1 Agammaglobulinemia Bruton-type (congenital X-linked) cylindroma Colorectal cancer Tetraamelia Spastic diplegia cerebral palsy agammaglobulinemia Crisponi syndrome FCC1 multiple malformations Multiple non-erupting teeth Sea-Blue histiocyte disease Crohn's disease of the maxillo-zygomatical hypoplasia Agammaglobulinemia Swiss type esophagus COCA1 and other congenital defects Histiocytosis sea-Blue Colon cancer familial nonpolyposis Non erupted teeth with maxillary SCID Cronkhite canada syndrome type 1 hypoplasia and genu valgum maxillo-zygomatical hypoplasia Sea-Blue histiocytosis Severe combined immunodeficiency and other congenital defects alymphocytotic type Cronkhite-Canada disease Lynch syndrome I Multiple non-erupting teeth Seaver cassidy syndrome alymphocytotic type Severe Stoelinga de Koomen Davis combined immunodeficiency Crossed polydactyly HNPCC1 syndrome Sebastian platelet syndrome familial nonpolyposis type 1 Colon Multiple ophthalmic anomalies and Swiss type Agammaglobulinemia Crossed polydactyly type 1 cancer digital hypoplasia Multiple pituitary hormone Sebastian syndrome Hereditary non-spherocytic deficiency without associated Severe combined immunodeficiency Crossed polysyndactyly Crouzon craniofacial hemolytic anemia malformations Sebocystomatosis Bubble boy disease Severe combined immunodeficiency dysostosis HNSHA CPHD Disseminated sebocystomatosis due to adenosine deaminase Combined pituitary hormone deficiency Craniofacial dysostosis type 1 Hereditary ochronosis deficiency Secernentea Infections Hereditary paroxysmal cerebral Multiple sclerosis ichthyosis factor Seckel like syndrome majoor Agammaglobulinemia X-linked Crouzon disease ataxia 8 deficiency krakauer type BTK-deficiency CFD 1 Hereditary peripheral nervous Multiple skeletal abnormalities with Seckel like syndrome type buebel 186