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Term:
Bullous Dystrophy, Hereditary Macular Type (DOID:9002920)
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Parent Terms Term With Siblings Child Terms
alopecia +     
Dwarfism +     
microcephaly +     
16p11.2 Deletion Syndrome  
3-M syndrome +   
3p- syndrome 
Aarskog syndrome +   
Abruzzo Erickson Syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
acanthosis nigricans +   
achalasia microcephaly syndrome 
achondroplasia +   
Achromatopsia Incomplete, X-Linked 
acrodysostosis +   
acromesomelic dysplasia +   
ADULT syndrome  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Agammaglobulinemia, X-Linked, Type 2 
AGAT deficiency  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Aicardi syndrome 
Akesson Syndrome 
Al Gazali Aziz Salem Syndrome 
AL-RAQAD SYNDROME  
Alacrima, Achalasia, and Mental Retardation Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
alopecia areata +   
Alopecia Congenita Keratosis Palmoplantaris +   
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
alopecia universalis +   
Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Hypogonadism, Extrapyramidal Disorder 
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
Alopecia-Mental Retardation Syndrome 1  
Alopecia-Mental Retardation Syndrome 2 
Alopecia-Mental Retardation Syndrome 3 
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
alpha thalassemia-intellectual disability syndrome type 1 
Alpha-Thalassemia Myelodysplasia Syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alzheimer's disease 16 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Amish Lethal Microcephaly  
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
anauxetic dysplasia 1  
Anauxetic Dysplasia 2  
androgen insensitivity syndrome +   
Androgenetic Alopecia 2 
Androgenetic Alopecia 3 
androgenic alopecia 
Anemia, X-Linked, without Thrombocytopenia 
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Anonychia with Flexural Pigmentation 
Ansell Bywaters Elderking Syndrome 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aphalangia Syndactyly Microcephaly 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Argyria 
Arthrogryposis, Mental Retardation, and Seizures  
Arthrogryposis, X-Linked, Type V 
Asparagine Synthetase Deficiency  
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Ataxia-Microcephaly-Cataract Syndrome 
Atelosteogenesis Type 3  
atrichia with papular lesions  
Atypical Mycobacteriosis, Familial, X-Linked 1  
Atypical Mycobacteriosis, Familial, X-Linked 2  
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant mental retardation 50  
autosomal dominant microcephaly +   
autosomal recessive cutis laxa type III +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
autosomal recessive spinocerebellar ataxia 12  
Ayme-Gripp Syndrome  
BADS syndrome 
Baetz-Greenwalt syndrome 
Bangstad Syndrome 
Baraitser Brett Piesowicz Syndrome 
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Basaran Yilmaz Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Behr Syndrome  
Bellini Chiumello Rimoldi Syndrome 
Biemond Syndrome II 
Bird Headed Dwarfism Montreal Type 
Birk-Barel syndrome  
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bloch-Sulzberger syndrome +   
Bohring Syndrome  
Boomerang dysplasia  
Bornholm Eye Disease 
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachydactylous Dwarfism Mseleni Type 
Brachydactyly, Type A2, With Microcephaly 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Brunner syndrome  
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Cafe-au-Lait Spots +   
CAHMR Syndrome 
Camera Marugo Cohen Syndrome 
CAMFAK Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cardiac Valvular Dysplasia, X-Linked  
Cartwright Nelson Fryns Syndrome 
cataract 40  
Cataract, Alopecia, Sclerodactyly 
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Central Centrifugal Cicatricial Alopecia 
Cephalin Lipidosis 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Cerebellofaciodental Syndrome  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
Cerebral Visual Impairment and Intellectual Disability  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Cerebrocostomandibular Syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
CHILD Syndrome  
Chondrodysplasia Calcificans Metaphysealis 
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
Choroid Plexus Calcification with Mental Retardation 
Choroideremia +   
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 1q21.1 duplication syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
chromosome 3q29 microdeletion syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
chromosome 8q21.11 deletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Chudley-Rozdilsky Syndrome 
CK Syndrome  
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate with Ankyloglossia  
Cochlear Deafness with Myopia and Intellectual Impairment  
Cockayne syndrome +   
Coffin Syndrome 1 
Cohen Syndrome  
Cohen-Gibson Syndrome  
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
combined T cell and B cell immunodeficiency +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Congenital Adrenal Hypoplasia with Precocious Puberty  
Congenital Alopecia X-Linked 
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Heart Defects, X-Linked +   
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
congenital hypogammaglobulinemia 
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital hypothyroidism +   
Congenital Idiopathic Intestinal Pseudoobstruction  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Myopathy, with Fiber-Type Disproportion, X-Linked 
Congenital Ptosis, Hereditary 2 
conjunctival pigmentation 
Cornelia de Lange syndrome +   
Cornelia De Lange Syndrome 2  
Cornelia De Lange Syndrome 5  
Corpus Callosum, Partial Agenesis of, X-Linked  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Cubitus Valgus with Mental Retardation and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Cutaneous Telangiectasia and Cancer Syndrome, Familial  
Cutis Verticis Gyrata and Mental Deficiency 
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
Danon disease  
Davis Lafer Syndrome 
De Sanctis-Cacchione Syndrome  
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
deafness-dystonia-optic neuronopathy syndrome  
deafness-intellectual disability, Martin-Probst type syndrome  
Dermatopathia Pigmentosa Reticularis  
Desbuquois dysplasia +   
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 
diastrophic dysplasia  
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant  
dicarboxylic aminoaciduria  
Digitorenocerebral Syndrome  
Dilated Cardiomyopathy 3A  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Distal Arthrogryposis Multiplex Congenita, X-Linked  
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Down syndrome +   
Dubowitz syndrome 
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave  
Duker Weiss Siber syndrome 
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dwarfism, Familial, with Muscle Spasms 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
dyschromatosis symmetrica hereditaria  
dyschromatosis universalis hereditaria +   
Dyserythropoietic Anemia with Thrombocytopenia  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
Dyssegmental Dysplasia with Glaucoma 
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
EAST syndrome  
Ectodermal Dysplasia 1, Anhidrotic +   
Ectodermal Dysplasia Alopecia Preaxial Polydactyly 
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ehlers-Danlos Syndrome Type 5 
Elejalde Disease 
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Emanuel Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epidermodysplasia Verruciformis, X-Linked 
epidermolysis bullosa acquisita 
epidermolysis bullosa dystrophica +   
epidermolysis bullosa simplex +   
Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 
Epidermolysis Bullosa with Diaphragmatic Hernia 
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 
Epidermolysis Bullosa, Lethal Acantholytic  
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive  
Epilepsy Telangiectasia 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Episodic Muscle Weakness, X-Linked 
Erythropoietic Protoporphyria, X-Linked Dominant  
External Ophthalmoplegia and Myopia 
Fabry disease +   
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Faciocardiomelic Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Exudative Vitreoretinopathy, X-Linked Recessive  
Familial Focal Alopecia 
favism  
Feingold syndrome +   
Feingold Trainer Syndrome 
Fetal Akinesia Syndrome, X-Linked 
Fg Syndrome 5 
fibrochondrogenesis +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
FLOTCH Syndrome 
Focal Epilepsy, with Speech Disorder and with or without Mental Retardation  
Follicular Hamartoma, Alopecia, Cystic Fibrosis 
follicular mucinosis 
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Frontonasal Dysplasia 2  
Frontonasal Dysplasia 3  
Galloway-Mowat syndrome +   
Garret Tripp Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
Gerodermia Osteodysplastica  
Gillespie Syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Glomerulonephritis with Sparse Hair and Telangiectases  
glycogen storage disease VIII 
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16  
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Graying of Hair, Precocious 
Griscelli syndrome +   
Grouped Pigmentation of the Macula 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
HAREL-YOON SYNDROME  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 32 
Hersh Podruch Weisskopk Syndrome 
Heterochromia Iridis  
Hittner Hirsch Kreh Syndrome 
Hodgkin Disease, X-Linked Pseudoautosomal 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoyeraal Hreidarsson Syndrome  
Hunter-McAlpine Syndrome 
Hydrocephalus with Cerebellar Agenesis 
Hydroxylysinuria 
Hypergonadotropic Hypogonadism And Partial Alopecia 
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
Hyperphosphatasia with Mental Retardation +   
Hyperpigmentation +   
hypertelorism, microtia, facial clefting syndrome 
Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility  
Hypertrichosis Congenital Generalized X-Linked 
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 
hypochondroplasia  
Hypogammaglobulinemia, X-Linked  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency  
Hypomagnesemia, Seizures, and Mental Retardation  
Hypomagnesemia, Seizures, and Mental Retardation 2  
Hypoparathyroidism, X-Linked 
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypopigmentation +   
hypopigmentation of eyelid 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Hypospadias-Mental Retardation Syndrome 
hypotonia-cystinuria syndrome  
hypotrichosis 7  
Ichthyosis and Male Hypogonadism 
Ichthyosis Follicularis Atrichia Photophobia Syndrome  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
Idiopathic Short Stature, X-Linked  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital  
Intracranial Berry Aneurysm 5 
isolated cleft palate  
isolated growth hormone deficiency +   
Isolated Noncompaction of the Ventricular Myocardium +   
Jagell Holmgren Hofer Syndrome 
Johanson-Blizzard syndrome  
Johnson Neuroectodermal Syndrome 
Jorgenson Lenz Syndrome 
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
junctional epidermolysis bullosa +   
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kapur Toriello Syndrome 
Karandikar Maria Kamble Syndrome 
Kat6a Syndrome  
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman Oculocerebrofacial Syndrome  
KBG syndrome  
Kenny Caffey Syndrome  
Keppen-Lubinsky Syndrome  
Keratosis Follicularis Dwarfism Cerebral Atrophy 
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Khalifa Graham Syndrome 
Kindler syndrome  
Kleefstra syndrome  
KLEEFSTRA SYNDROME 2  
Kniest dysplasia  
Koone Rizzo Elias Syndrome 
Kosztolanyi Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Kuzniecky Andermann Syndrome 
Lambert Syndrome 
Lambotte Syndrome 
Laplane Fontaine Lagardere Syndrome 
Laron syndrome +   
Leigh Syndrome, X-Linked  
Lenz Majewski Hyperostotic Dwarfism  
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Light Fixation Seizure Syndrome 
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2  
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Liver Glycogenosis, X-Linked, Type II 
Loose Anagen Hair Syndrome +   
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome 
Lubani Al Saleh Teebi Syndrome 
Luscan-Lumish syndrome  
Lynch Lee Murday syndrome 
MacDermot Winter Syndrome 
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macular Dystrophy, X-Linked +   
Macules Hereditary Congenital Hypopigmented and Hyperpigmented 
major affective disorder 2 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
mandibulofacial dysostosis with alopecia  
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marfanoid Mental Retardation Syndrome, Autosomal 
Marinesco-Sjogren syndrome  
Martsolf syndrome  
MASA syndrome  
McDonough Syndrome 
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
megalocornea +   
MEHMO syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
MEND SYNDROME  
Menke-Hennekam Syndrome 1  
Menke-Hennekam Syndrome 2   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Associated with Psoriasis 
Mental Retardation Mietens Weber Type 
Mental retardation Smith Fineman Myers type 
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation Syndrome, Belgian Type 
Mental Retardation with Language Impairment and with or without Autistic Features  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation with Spastic Paraplegia 
Mental Retardation Wolff Type 
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
Mental Retardation, Autosomal Recessive 8 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Fra12a Type  
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
Metatropic Dwarfism  
Metatropic Dwarfism, Type II 
Methionine Malabsorption Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
microcephaly and chorioretinopathy 1 +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microcornea Syndrome Seemanova Type 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern 
Microcephaly with Spastic Quadriplegia  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM +   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Microphthalmia, Isolated, with Coloboma 1 
Microphthalmia, Syndromic 13  
Microphthalmia, Syndromic 7  
Midline Defects, X-Linked 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mollica Pavone Antener Syndrome 
Moloney Syndrome 
MOMES Syndrome 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mowat-Wilson syndrome  
mulibrey nanism  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
Multiple Pterygium Syndrome, X-Linked 
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  
Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3  
muscular dystrophy-dystroglycanopathy type B6  
Myopathy, Reducing Body, X-Linked, Childhood-Onset  
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe  
Myopia 1 
Myopia 13 
MYOPIA 26, X-LINKED, FEMALE-LIMITED  
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome  
Nakamura Osame syndrome 
Nasodigitoacoustic Syndrome  
NEMO Mutation with Immunodeficiency 
neonatal jaundice +   
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Nephrolithiasis, X-Linked Recessive, with Renal Failure  
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
Neu-Laxova syndrome 1  
Neuhauser Syndrome 
Neural Tube Defects X-Linked 
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES  
Neurofaciodigitorenal Syndrome 
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Nievergelt Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Nisch syndrome  
non-syndromic intellectual disability +   
nonprogressive cerebellar ataxia with mental retardation  
Nystagmus 1, Congenital, X- Linked  
Nystagmus 5, Infantile Periodic Alternating 
Oculocerebral Hypopigmentation Syndrome Type Preus 
Oculopalatocerebral Syndrome 
Ohdo syndrome +   
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Oliver Syndrome 
Oliver-McFarlane Syndrome  
Onychotrichodysplasia and Neutropenia 
Opitz GBBB Syndrome, Type I  
Opitz Trigonocephaly Syndrome  
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
Optic Atrophy 2 
ornithine carbamoyltransferase deficiency  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteolysis Syndrome Recessive 
otospondylomegaepiphyseal dysplasia  
ovarian dysgenesis 2  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Paine Syndrome 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Panhypopituitarism X-Linked  
Parastremmatic Dwarfism  
PARC Syndrome 
Parkinson's Disease 12 
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partington Anderson Syndrome 
Pashayan Syndrome 
Patel Bixler Syndrome 
Patella Hypoplasia Mental Retardation 
Pavone Fiumara Rizzo Syndrome 
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
Perisylvian Syndrome +   
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Perniola Krajewska Carnevale Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHGDH deficiency  
Phosphoglycerate Kinase 1 Deficiency  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Photosensitive Trichothiodystrophy 1  
Pigmented Purpuric Eruption 
Pilotto Syndrome 
Pitt-Hopkins syndrome +   
Piussan Lenaerts Mathieu syndrome 
porencephaly +   
Postnatal Progressive Microcephaly with Seizures and Brain Atrophy  
Prader-Willi syndrome +   
Premature Ovarian Failure 2a  
primary microcephaly +   
Primrose Syndrome  
Progressive Hearing Loss Stapes Fixation  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Progressive Muscular Dystrophy, Pectorodorsal 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
Properdin Deficiency, Type II  
Properdin Deficiency, Type III  
Properdin Deficiency, X-Linked  
Proportionate Dwarfism, with Hip Dislocation 
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Proud Syndrome  
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
PSAT deficiency  
pseudo-TORCH syndrome 1  
Pseudoaminopterin Syndrome 
Pseudodiastrophic Dysplasia 
Pseudouridinuria and Mental Defect 
Qazi Markouizos syndrome 
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Radius Absent Anogenital Anomalies 
RAHMAN SYNDROME  
Raine Syndrome  
Rajab Syndrome  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
Reardon Wilson Cavanagh Syndrome 
Red Skin Pigment Anomaly of New Guinea 
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6 
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Richards-Rundle Syndrome 
Ritscher-Schinzel syndrome 2  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow syndrome +   
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rommen Mueller Sybert Syndrome 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Russell-Silver Syndrome, X-Linked 
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
Sammartino De Crecchio Syndrome 
Sao Paulo MCA/MR Syndrome 
Satoyoshi Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
SCARF Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Sclerosing Bone Dysplasia Mental Retardation 
Scott Bryant Graham Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
Selective Tooth Agenesis, X-Linked, 1  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Congenital Neutropenia, X-Linked  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Shaheen Syndrome  
Short Limb Dwarfism Al Gazali Type 
Short Stature and Facioauriculothoracic Malformations 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simpson-Golabi-Behmel syndrome type 1  
Singh Chhaparwal Dhanda Syndrome 
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Sketetal Dysplasia Coarse Facies Mental Retardation 
Skin Creases, Congenital Symmetric Circumferential, 1  
Skin Creases, Congenital Symmetric Circumferential, 2  
Skin/Hair/Eye Pigmentation, Variation In, 1  
Skin/Hair/Eye Pigmentation, Variation In, 10  
Skin/Hair/Eye Pigmentation, Variation In, 11  
Skin/Hair/Eye Pigmentation, Variation In, 4  
Skin/Hair/Eye Pigmentation, Variation In, 5  
Skin/Hair/Eye Pigmentation, Variation In, 6  
Skin/Hair/Eye Pigmentation, Variation In, 7  
Skin/Hair/Eye Pigmentation, Variation In, 8  
Skin/Hair/Eye Pigmentation, Variation In, 9  
Slti Salem Syndrome 
Smith-Kingsmore Syndrome  
spastic ataxia +   
Spastic Diplegia Infantile Type 
Spastic Paraplegia Epilepsy Mental Retardation 
Spastic Paraplegia, Ataxia, and Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Paresis, Glaucoma, and Mental Retardation 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY  
Spina Bifida, X-Linked 
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spinal Muscular Atrophy, Distal, X-Linked 3  
Spinocerebellar Ataxia, X-Linked 1  
Spinocerebellar Ataxia, X-Linked 5 
Spinocerebellar Ataxia, X-Linked, 3 
split hand-foot malformation 2 
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloepimetaphyseal Dysplasia, Genevieve Type  
Spondyloepimetaphyseal Dysplasia, X-Linked  
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Spondylometaphyseal Dysplasia, X-Linked 
Stevenson-Carey Syndrome 
stromal corneal pigmentation 
Stromme syndrome  
Sucrosuria, Hiatus Hernia and Mental Retardation 
Supernumerary Der(22)t(8 
Surfactant Metabolism Dysfunction, Pulmonary, 4  
Symmetric Acroleukopathy 
syndromic intellectual disability +   
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability Turner type  
Synovial Chondromatosis, Familial, with Dwarfism 
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tang Hsi Ryu Syndrome 
TATTON-BROWN-RAHMAN SYNDROME  
Teebi Kaurah Syndrome 
telogen effluvium 
Temple-Baraitser syndrome  
temtamy preaxial brachydactyly syndrome  
Tenorio Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Testicular Germ Cell Tumor 1 
Tetrasomy X 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Three M Syndrome 2  
Thrombocytopenia 1  
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
Thrombocytopenia, X-Linked, Intermittent  
Thrombocytosis, Familial X-Linked 
Thumb Deformity and Alopecia 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
Thyroxine-Binding Globulin Deficiency +   
Tonoki Syndrome 
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Total Anonychia with Microcephaly 
Trichodental Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome 
Ulnar Hypoplasia with Mental Retardation 
Upton Young Syndrome 
Urban Schosser Spohn Syndrome 
urticaria pigmentosa  
Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation  
VACTERL/VATER Association with Hydrocephalus  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
Verloes Gillerot Fryns Syndrome 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
Von Willebrand Disease, X-Linked Form 
Waardenburg Syndrome Type 4 +   
WAGR syndrome +   
Walker Dyson Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Weill-Marchesani syndrome +   
Weill-Marchesani-Like Syndrome  
Wells Jankovic Syndrome 
White Forelock with Malformations 
Whyte Murphy Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Williams-Beuren syndrome +   
Winship Viljoen Leary Syndrome 
Woodhouse Sakati Syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
Worster Drought Syndrome  
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked dilated cardiomyopathy  
X-linked dominant disease +   
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-linked recessive disease +   
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-Linked Thrombophilia, due to Factor IX Defect  
X-Linked Vesicoureteral Reflux 
xeroderma pigmentosum +   
yellow nail syndrome +  
Yorifuji Okuno Syndrome 
Young Hughes Syndrome 
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 
ZTTK Syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: EBM ;   Epidermolysis Bullosa, Macular Type
Primary IDs: MESH:C563065 ;   RDO:0012499
Alternate IDs: OMIM:302000

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