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Term:
White Forelock with Malformations (DOID:9008889)
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Parent Terms Term With Siblings Child Terms
Facies +     
hair disease +     
16Q24.3 Microdeletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3p- syndrome 
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
acanthosis nigricans +   
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Adducted Thumbs Syndrome +   
ADULT syndrome  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Aksu von Stockhausen Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome 
Alagille syndrome  
Angelman syndrome  
Anisomastia 
Anonychia with Flexural Pigmentation 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Argyria 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
asphyxiating thoracic dystrophy +   
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant non-syndromic intellectual disability 22  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome type 1  
Axial Mesodermal Dysplasia Spectrum 
Ayme-Gripp Syndrome  
BADS syndrome 
Bamforth-Lazarus syndrome  
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Basaran Yilmaz Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beckwith-Wiedemann syndrome +   
Beemer Ertbruggen Syndrome 
Ben Ari Shuper Mimouni Syndrome 
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
Bird Headed Dwarfism Montreal Type 
BIRK-LANDAU-PEREZ SYNDROME  
Bjornstad syndrome  
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Boomerang dysplasia  
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymesomelia Renal Syndrome 
Brachytelephalangy Characteristic Facies Kallmann 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Broad Terminal Phalanges, Familial 
Brooks-Wisniewski-Brown syndrome 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Burn-Mckeown Syndrome  
Burnett Schwartz Berberian Syndrome +   
Cafe-au-Lait Spots +   
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY  
cardiofaciocutaneous syndrome +   
Carney complex +   
Catatrichy 
Cerebellofaciodental Syndrome  
Cerebrofaciothoracic Dysplasia  
Cervical Ribs Sprengel Anomaly Anal Atresia Urethral Obstruction 
Char syndrome  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
CHILD Syndrome  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 19q13.11 deletion syndrome 
chromosome 1q21.1 deletion syndrome  
chromosome 22q11.2 deletion syndrome, distal 
chromosome 22q11.2 microduplication syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
chromosome 5p13 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
ciliopathy +   
Clark-Baraitser Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
COACH Syndrome  
Cockayne syndrome +   
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
congenital secretory sodium diarrhea 3  
Congenital Woolly Hair +   
conjunctival pigmentation 
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Copper Deficiency, Familial Benign 
Cornelia de Lange syndrome +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
Craniofacial Deafness Hand Syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deaf-Blind Disorders +   
Deafness, Nephritis, Anorectal Malformation 
Deafness-Craniofacial Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
Dermoodontodysplasia 
Desmosterolosis  
Devriendt syndrome 
dilated cardiomyopathy with woolly hair and keratoderma +   
Dincsoy Salih Patel Syndrome 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DK Phocomelia Syndrome 
Donohue syndrome +   
Down syndrome +   
Dubowitz syndrome 
dyschromatosis symmetrica hereditaria  
dyschromatosis universalis hereditaria +   
ectodermal dysplasia +   
Ectodermal Dysplasia 4, Hair/Nail Type  
Ectodermal Dysplasia 9, Hair/Nail Type  
Ectodermal Dysplasia Alopecia Preaxial Polydactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
Elejalde Disease 
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
FACES Syndrome 
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
fibrochondrogenesis +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Flat Umbilicus Familial 
Floating-Harbor Syndrome  
FLOTCH Syndrome 
folliculitis +   
Forney Robinson Pascoe Syndrome  
Fountain Syndrome 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Fried Goldberg Mundel Syndrome 
Fryns Macrocephaly 
Fryns Syndrome 
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Geleophysic Dysplasia 1  
Geleophysic Dysplasia 2  
Geleophysic Dysplasia 3  
Genee-Wiedemann Syndrome  
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Glutamyl Ribose-5-Phosphate Storage Disease 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Gorlin Chaudhry Moss Syndrome 
Granddad Syndrome 
Grant Syndrome 
Graying of Hair, Precocious 
Griscelli syndrome +   
Grouped Pigmentation of the Macula 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hairy Palms and Soles 
Halal Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hecht Syndrome  
hereditary spastic paraplegia 23  
Hersh Podruch Weisskopk Syndrome 
Heterochromia Iridis  
Heterotaxy, Visceral, 2, Autosomal  
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hirsutism +   
Hittner Hirsch Kreh Syndrome 
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holoprosencephaly 10 
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hordnes Engebretsen Knudtson syndrome 
Hunter-Macdonald Syndrome 
Hyperphosphatasia with Mental Retardation +   
Hyperpigmentation +   
hypertrichosis +   
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 
Hypomelia Mullerian Duct Anomalies 
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypopigmentation +   
hypopigmentation of eyelid 
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1  
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2  
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3  
Hypotonia, Seizures, and Precocious Puberty 
hypotrichosis +   
inclusion-cell disease  
Insulin-Like Growth Factor I, Resistance To  
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 HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
Isolated Noncompaction of the Ventricular Myocardium +   
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Joubert syndrome 1  
Jung Wolff Back Stahl Syndrome 
Kabuki syndrome +   
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kapur Toriello Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman Oculocerebrofacial Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleiner Holmes Syndrome 
Koolen de Vries syndrome  
KOSAKI OVERGROWTH SYNDROME  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kyphomelic Dysplasia 
LADD syndrome  
Larsen Syndrome, Recessive Type  
Larsen-like syndrome 
Larsen-Like Syndrome, Lethal Type 
Lateral Meningocele Syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow Syndrome  
Le Marec Bracq Picaud Syndrome 
Lenz Majewski Hyperostotic Dwarfism  
LEOPARD syndrome +   
Leri Pleonosteosis 
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Lichtenstein Syndrome 
Light Fixation Seizure Syndrome 
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2  
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3  
Loeys-Dietz syndrome +   
Lopes Gorlin Syndrome 
Lowry Maclean syndrome 
Lung Agenesis  
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Macules Hereditary Congenital Hypopigmented and Hyperpigmented 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Malocclusion and Short Stature 
Manouvrier Syndrome 
Marden Walker Like Syndrome  
Marden-Walker Syndrome  
Marfan syndrome +   
Marfanoid Mental Retardation Syndrome, Autosomal 
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
Martinez Monasterio Pinheiro Syndrome 
McDonough Syndrome 
McKusick Kaufman Syndrome  
McPherson Clemens Syndrome 
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
Melhem Fahl Syndrome 
Menke-Hennekam Syndrome 1  
Menke-Hennekam Syndrome 2   
Menkes disease +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly  
Michels Caskey Syndrome 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
Microdontia Hypodontia Short Stature 
Microspherophakia with Hernia 
MIRAGE SYNDROME  
Mobius syndrome +   
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Muller Barth Menger Syndrome 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple pterygium syndrome +   
Multiple Pterygium Syndrome, X-Linked 
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Naxos Disease  
neonatal jaundice +   
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma syndrome +   
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Novak Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Oculotrichodysplasia 
Ogden syndrome  
Omodysplasia 2  
Opitz Trigonocephaly Syndrome  
Oroacral Syndrome, Verloes-Koulischer Type 
orofaciodigital syndrome +   
Oslam syndrome 
Osteolysis Syndrome Recessive 
Otoonychoperoneal Syndrome 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
Partington Anderson Syndrome 
Patterson Pseudoleprechaunism Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
Pelvis-Shoulder Dysplasia 
Penoscrotal Transposition 
Pentalogy of Cantrell 
Perisylvian Syndrome +   
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
Photosensitive Trichothiodystrophy 1  
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pierson syndrome  
Pigmented Purpuric Eruption 
Pili Annulati 
Pili Multigemini 
Pili Torti +  
Pilotto Syndrome 
Pituitary Hormone Deficiency, Combined, 1  
Pituitary Hormone Deficiency, Combined, 4  
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
polycystic kidney disease +   
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias  
Premature Aging, Okamoto Type 
Primrose Syndrome  
Progeroid Facial Appearance with Hand Anomalies 
Prolidase Deficiency  
Proteus syndrome +   
prune belly syndrome +   
Pseudoaminopterin Syndrome 
Pseudofolliculitis Barbae  
Pseudomonilethrix 
Qazi Markouizos syndrome 
Radial Defect Robin Sequence 
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radial Ray Hypoplasia Choanal Atresia 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Raine Syndrome  
Ramos Arroyo Clark Syndrome 
Red Skin Pigment Anomaly of New Guinea 
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Ritscher-Schinzel syndrome +   
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Rodrigues Blindness 
Roifman-Chitayat Syndrome 
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Russell-Silver Syndrome, X-Linked 
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Defect and Anterior Sacral Meningocele  
Sacral Meningocele Conotruncal Heart Defects 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sao Paulo MCA/MR Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome 
Say Syndrome 
Scalp Ear Nipple Syndrome  
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schinzel-Giedion Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Scott Bryant Graham Syndrome 
Seaver Cassidy Syndrome 
Sebaceous Nevus of Jadassohn +   
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seckel syndrome 1  
Seckel Syndrome 3 
Seemanova Lesny Syndrome 
Seow Najjar Syndrome 
Severe Growth Restriction with Distinctive Facies  
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Shprintzen Omphalocele Syndrome 
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Simpson-Golabi-Behmel syndrome type 2  
Skin Fragility-Woolly Hair Syndrome  
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  
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Sotos syndrome +   
Spinocerebellar Ataxia with Dysmorphism 
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stevenson-Carey Syndrome 
Stoelinga de Koomen Davis Syndrome 
stromal corneal pigmentation 
superficial mycosis +  
Symmetric Acroleukopathy 
Tamari Goodman Syndrome 
Tang Hsi Ryu Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Terminal Osseous Dysplasia and Pigmentary Defects  
Tetra-Amelia with Pulmonary Hypoplasia 
Tetraamelia Multiple Malformations 
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia Robin Sequence 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
Thymic Aplasia with Fetal Death 
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
tinea capitis +  
Tollner Horst Manzke Syndrome 
Townes-Brocks syndrome  
TOWNES-BROCKS SYNDROME 2  
Townes-Brocks-Branchiootorenal-Like Syndrome  
Tricho-Dento-Osseous Syndrome  
Tricho-Dento-Osseous Syndrome 1 
Trichodysplasia-Xeroderma 
Trichohepatoenteric Syndrome  
Trichohepatoenteric Syndrome 2  
TRICHOMEGALY  
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type III  
Trichostasis Spinulosa 
Trichothiodystrophy Syndromes +   
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tsukahara Syndrome 
ulnar-mammary syndrome  
Uncombable Hair Syndrome +   
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
urticaria pigmentosa  
Uruguay Faciocardiomusculoskeletal Syndrome  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1  
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
VERVERI-BRADY SYNDROME  
visceral heterotaxy +   
Vohwinkel Syndrome  
Waardenburg Syndrome Type 4 +   
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Warburg micro syndrome +   
Weaver syndrome  
Weill-Marchesani syndrome +   
Weyers Acrofacial Dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Whyte Murphy Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Winchester Syndrome  
Winter Harding Hyde Syndrome 
Wolf-Hirschhorn syndrome  
Woolly Hair, Autosomal Recessive +   
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
WT Limb Blood Syndrome 
xeroderma pigmentosum +   
XK Aprosencephaly 
yellow nail syndrome +  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zimmerman Laband Syndrome  
ZTTK Syndrome  

Synonyms
Primary IDs: MESH:C536700 ;   RDO:0002356

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