Gene Summary

Name:
F-box and WD-40 domain protein 18
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
preweaning lethality, complete penetrance Fbxw18em1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal heart morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal thymus morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal thymus morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
small seminal vesicle Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
small spleen Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Fbxw18em1(IMPC)Ccpcz HET   Early adult 4.38×10-05
abnormal digit morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 4.71×10-05
abnormal tooth morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
kyphosis Fbxw18em1(IMPC)Ccpcz HET   Early adult 9.75×10-05
small testis Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
enlarged heart Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal brain morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
hydrocephaly Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

21 Images

X-ray

XRay Images Hind Leg and Hip

42 Images

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

X-ray

XRay Images Forepaw

21 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

Human diseases caused by Fbxw18 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fbxw18 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Bowing of the long bones,... ORPHA:1802
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short iliac bones, Kyphosis, Flattened proximal radial epiphyses, Back pain, Short lon... OMIM:271530
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Short neck OMIM:168400
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Kyphosis, Camptodactyly, Short thumb, Clinodactyly of the 5th finger OMIM:618453
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia, Hydrocephalus OMIM:209970
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
1Q21.1 Microduplication Syndrome
Hip dysplasia, Cryptorchidism, Talipes equinovarus, Tetralogy of Fallot, Hypospadias, Hip disloca... ORPHA:250994
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, C... OMIM:602557
Mend Syndrome
Overlapping fingers, Cryptorchidism, Overlapping toe, Microretrognathia, Polydactyly, 2-3 toe syn... OMIM:300960
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Genu valgum, Metaphyseal irregularity, Ovoid vertebral bodies, Kyphosis... ORPHA:93315
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Proximal femoral metaphyseal irregularity, Rhizomelia, Coxa vara, Narrow greater s... OMIM:602271
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Preaxial hand polyda... OMIM:175700
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Thoracic kyphosis, Irregular vertebral endplates, Lumbar h... OMIM:609223
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Postaxial hand polydactyly, Hydrocephalus OMIM:615938
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Thin vermilion border, Carious teeth, Abnormal palate morphology, Deep philtrum, ... ORPHA:2701
Temple Syndrome
Cryptorchidism, Short philtrum, Maturity-onset diabetes of the young, Decreased testicular size, ... OMIM:616222
Hip Dysplasia, Beukes Type
Scoliosis, Hip dysplasia, Abnormal ossification involving the femoral head and neck, Abnormality ... ORPHA:2114
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Hydrocephalus, Abnormal heart morphology, Microglossia, Cleft palate,... OMIM:241800
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Vertebral segm... OMIM:609813
Genitopalatocardiac Syndrome
Abnormality of mesentery morphology, Cryptorchidism, Postaxial hand polydactyly, Downturned corne... ORPHA:2075
Metatropic Dysplasia
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Flared femoral metaphysis, Abnorm... OMIM:156530
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus OMIM:300886
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Polydactyly, Scrotal hypoplasia, Natal tooth, Postaxial polydactyly, Sandal gap, ... OMIM:612651
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the metaphysis, Splenomegaly ORPHA:417
Sandhoff Disease
Hepatomegaly, Kyphosis, Splenomegaly ORPHA:796
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Postaxial hand polydactyly, Hydrocephalus OMIM:615937
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Ethanolaminosis
Cardiomegaly OMIM:227150
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Duplication of metatarsal bon... OMIM:600384
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Triploidy
Cryptorchidism, Ambiguous genitalia, Macroglossia, Narrow mouth, Finger syndactyly, Holoprosencep... ORPHA:3376
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Biemond Syndrome Type 2
Preaxial polydactyly, Delayed puberty, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, ... ORPHA:141333
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... OMIM:177170
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Short 4th metacarpal, Azoospermia, Abnormality of the hypothalamus-pituitary axis... ORPHA:2183
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia, Hydrocephalus OMIM:166990
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Autosomal Dominant Brachyolmia
Abnormality of the metaphysis, Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Narrow iliac wing, Irre... OMIM:609162
Achondroplasia
Limited elbow extension, Trident hand, Rhizomelia, Bowing of the legs, Flared metaphysis, Genu va... OMIM:100800
Laurin-Sandrow Syndrome
Cryptorchidism, Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Downturned corners of... ORPHA:2378
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Long philtrum, Ventriculomegaly, Hypoplastic female external genitalia, Ulnar dev... OMIM:618577
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Carious teeth, Spina bifida occulta, Hypospadias, Single transverse palmar crease... OMIM:101805
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Cryptorchidism, Shortening of all distal phalanges of the fingers, Cervical spinal can... OMIM:301900
Carpenter Syndrome
Cryptorchidism, Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger synd... ORPHA:65759
Mental Retardation, Buenos Aires Type
Carious teeth, Atrial septal defect, Mandibular prognathia, High palate, Wide mouth, Thin upper l... OMIM:249630
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Spondyloperipheral Dysplasia
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Temple Syndrome
Cryptorchidism, Hydrocephalus, Small hand, Type II diabetes mellitus, Short foot, Bifid uvula, Cl... ORPHA:254516
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Metaphyseal irregularity, Hepatomegaly, Cardiomegaly, Gingival overgrowth... OMIM:269920
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Small hand, Short foot, Talipes equinovarus, Hip dislocation OMIM:300434
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Pulmonic stenosis, Aortic va... OMIM:220210
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Gingivitis, Periodontitis, Hydrocephalus, Abnormality of the dentition ORPHA:1008
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Toe syndactyly, Radioulnar synostosis, Bowi... ORPHA:171839
Pentalogy Of Cantrell
Abnormality of tibia morphology, Atrial septal defect, Ventricular septal defect, Split hand, Pol... ORPHA:1335
Trisomy 4P
Cryptorchidism, Carious teeth, Radial club hand, Preaxial hand polydactyly, Camptodactyly of fing... ORPHA:1738
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Amenorrhea, Hepatocellular carcinoma, Impotence, Hepatomegaly, Testicular... OMIM:235200
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Diencephalic Syndrome
Long penis, Abnormality of the hypothalamus-pituitary axis, Everted lower lip vermilion, Large ha... ORPHA:1672
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Brachydactyly OMIM:618392
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Ruvalcaba Syndrome
Scoliosis, Cryptorchidism, Limited elbow extension, Short metatarsal, Short phalanx of finger, Ky... OMIM:180870
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Carious teeth, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, ... ORPHA:2501
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Hydrocephalus, Cleft palate OMIM:258320
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Short neck OMIM:300718
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Deep philtrum, Alobar holoprosencephaly, Oral cle... OMIM:609637
Bethlem Myopathy 2
Kyphosis, Scapular winging, Hip dislocation OMIM:616471
Dysplastic Cortical Hyperostosis
Hepatomegaly, Abnormality of limb bone morphology, Limb undergrowth, Splenomegaly ORPHA:2204
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Congenital Toxoplasmosis
Ventriculomegaly, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Hydrocephalus, ... ORPHA:858
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Postaxial hand polydactyly, Ventricular septal defect, Ventriculomegaly, Cholestasis... OMIM:615630
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Mulibrey Nanism
Enamel hypoplasia, Myocardial fibrosis, Dental crowding, Ventriculomegaly, Hypoplastic frontal si... OMIM:253250
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Gracile Bone Dysplasia
Ankyloglossia, Brachydactyly, Slender long bone, Asplenia, Flared metaphysis, Hypoplastic spleen,... OMIM:602361
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis, Talipes equinovarus, Elbow flexion contracture OMIM:600175
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Abnormal testis morphology, Kyphosis, Bilateral single transverse palmar creases, Arac... ORPHA:1548
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Rocker bottom foot, Kyphosis, Camptodactyly, Short neck OMIM:618393
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Microgna... OMIM:260660
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Male hypogonadism, Bilateral breast hypoplasia, Azoospermia, Oli... ORPHA:52901
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Spl... OMIM:610333
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Polydactyly, Malformation of the hepatic ductal plate, Postaxial foot... OMIM:607361
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Fibular bowing, Horizontal sacrum, Anterior tibial bowi... OMIM:112350
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Talipes equinovarus, Hepatomegaly, Splenomegaly OMIM:616719
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Genu valgum, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Abnormali... ORPHA:93316
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the legs, Lower limb un... OMIM:612847
Mirage Syndrome
Overlapping fingers, Cryptorchidism, Radial club hand, Rocker bottom foot, Microphallus, Talipes ... OMIM:617053
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... OMIM:607326
Gorlin Syndrome
Cryptorchidism, Carious teeth, Palmar pits, Mandibular prognathia, Hypogonadotropic hypogonadism,... ORPHA:377
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat ace... OMIM:251450
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Back pain, Irregular vertebral endplates, Intervertebral space narrowing... OMIM:271630
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Decreased testicular size, Abnormality of the ovary, Kyphosis ORPHA:1875
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Histiocytosis, Pancreatic hypoplasia, Cardiomegaly, Mitral valve prolapse, Retrope... OMIM:602782
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Short philtrum, Abnormal heart morphology, Mandibular prognathia, Everted lower l... OMIM:601499
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Long philtrum, Talipes equinovarus, Narrow palate, Ventricular septal defect... OMIM:617022
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Polydactyly, Ventriculomegaly, Smooth philtrum, Syndactyly, Leukemia, ... OMIM:602501
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Ventricular septal defect, Protruding tongue, Cleft palate, Bifid u... OMIM:612938
Brachyolmia Type 3
Scoliosis, Platyspondyly, Proximal femoral metaphyseal irregularity, Kyphosis, Radial deviation o... OMIM:113500
Roifman Syndrome
Short toe, Biconvex vertebral bodies, Irregular vertebral endplates, Short metacarpal, Lymphadeno... OMIM:616651
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:2635
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Hip dysplasia, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Brach... ORPHA:1858
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Scoliosis, Kyphosis, Macrovesicular hepatic steatosis OMIM:618234
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Diabetic Embryopathy
Cryptorchidism, Abnormal morphology of female internal genitalia, Ventricular septal defect, Spin... ORPHA:1926
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Kyphosis, Congenital bilateral hip dislocation ORPHA:85288
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Hydrolethalus
Cryptorchidism, Postaxial hand polydactyly, Arrhinencephaly, Micromelia, Anencephaly, Gingival cl... ORPHA:2189
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion, Syndactyly, Cardiomegaly OMIM:613576
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Abnormal internal genitalia, Hepatic f... OMIM:612284
Aarskog-Scott Syndrome
Cryptorchidism, Delayed puberty, Broad philtrum, Hypoplasia of the maxilla, Elevated circulating ... OMIM:305400
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, Micrognathia, 3-4 finger syndactyly, ... ORPHA:2437
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Overlapping fingers, Congenital hip dislocation, Kyphosis, Hand clenching, Talipes equ... OMIM:618291
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Infantile Liver Failure Syndrome 3
Platyspondyly, Beaking of vertebral bodies, Hepatic steatosis, Hepatic bridging fibrosis, Abnorma... OMIM:618641
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Abnormality of the palmar creases, Downturned corners of mouth, Ventricular... OMIM:618652
48,Xxyy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, B... ORPHA:10
Zimmermann-Laband Syndrome 3
Absent distal phalanx of the 2nd toe, Kyphosis, Aplasia of the distal phalanx of the 5th toe, Sho... OMIM:618658
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Mandibular prognathia, Everted lower lip vermilion, Macroorchidism, Sm... ORPHA:324410
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Mandibular progn... OMIM:101800
Masa Syndrome
Hyperlordosis, Talipes equinovarus, Kyphosis, Adducted thumb OMIM:303350
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Mandibular prognathia, Sandal gap, High palate, Brachydactyly, Malar flattenin... OMIM:600991
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Preaxial polydactyly, Postaxial polydactyly, Thin upper lip vermilion, Hypoplas... OMIM:617866
Opsismodysplasia
Squared iliac bones, Broad thumb, Abnormality of epiphysis morphology, Hypoplastic pubic bone, Br... ORPHA:2746
Mohr Syndrome
Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palate, Micrognathia... OMIM:252100
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Pycnodysostosis
Delayed eruption of teeth, Short toe, Narrow palate, Abnormality of dental morphology, Abnormalit... ORPHA:763
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndac... ORPHA:380
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Short finger, Thoracolumbar scoliosis, Tapered finger, Hyperextensibilit... OMIM:313420
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Ventricular septal defect, Ventriculomegaly, Hypospadias, Malar flattening, Hydro... OMIM:218350
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Tongue nodules, Polydactyly, Lobulated tongue, Alveolar ridge o... OMIM:311200
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Thoracic kyphosis, Carpal bone hypoplasia, Camptodactyly, Iliac cres... OMIM:223800
Distal Trisomy 18Q
Cryptorchidism, Carious teeth, Camptodactyly of finger, Abnormality of dental morphology, Large h... ORPHA:1716
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261102
Microphthalmia With Limb Anomalies
Cryptorchidism, Thin vermilion border, Hypoplasia of the premaxilla, Tarsal synostosis, Broad thu... ORPHA:1106
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, 2-3 toe syndactyly, Clinodactyly, Brachydactyly, Tapered finger OMIM:617061
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Clubbing of fingers, Increased proportion autoreactive unresponsive CD21-... OMIM:618534
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Hydrolethalus Syndrome 2
Ventriculomegaly, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Cleft palate, Microgn... OMIM:614120
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Hip dysplasia, Camptodactyly of finger, Hypoplastic cervical vertebrae... ORPHA:628
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Nonossified fifth metatarsal, Short metatarsal, Narrow mouth, Congenital hip disl... OMIM:304120
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Flared iliac wing, Kyphosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Atrial septal defect, Microretrognathia, Adducted thumb, Patent foramen ovale... ORPHA:89844
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Finger clino... ORPHA:8
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Abnormality of epiphysis morphology, Abnormality of the dentition, Ab... ORPHA:53
Proteus-Like Syndrome
Open bite, Communicating hydrocephalus, Mandibular prognathia, Polycystic ovaries, Abnormality of... ORPHA:2969
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Tapered finger, Large hands ORPHA:276630
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Cryptorchidism, Hip dysplasia, Rocker bottom foot, Kyphosis, Hand clenching, Talipes e... OMIM:611890
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Cryptorchidism, Kyphosis, Tapered finger OMIM:618512
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Hepatomegaly, Spinal canal stenosis, Splenomegaly, Abnormality of ... ORPHA:93476
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Clubbing of fingers, Narrow mouth, Abnormal heart morphology, Broad long bones, H... ORPHA:1865
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Enlarged kidney, Short humerus, Absent radius, Atrioventricul... OMIM:314390
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Spherocytosis, Splenomegaly ORPHA:66518
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Thoracic kyphosis, Flattened femoral head, Abnormal lumbar spi... ORPHA:93284
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Cryptorchidism, Kyphosis, Talipes equinovarus, Adducted thumb OMIM:618484
3C Syndrome
Oral cleft, High, narrow palate, Micrognathia, Hydrocephalus, Abnormal tricuspid valve morphology... ORPHA:7
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Preaxial hand polydactyly, Abnormal form of the vertebral bodies, Abnormalit... ORPHA:3098
Beemer-Ertbruggen Syndrome
Cryptorchidism, Ambiguous genitalia, Deep philtrum, Thrombocytopenia, Micrognathia, Communicating... ORPHA:1237
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Hydrocephalus, Decreased female libido, Anterior hypop... ORPHA:91348
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Sclerotic vertebral endplates, Thrombocytopenia, Hepatomegaly, Anemia, Splenomeg... OMIM:611490
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Narrow mouth, Ventricular septal defect, Abnormal cardiac septum morp... ORPHA:83473
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Downturned corners of mouth, Hydrocephalus, Bilate... ORPHA:2409
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Dentinogenesis Imperfecta
Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnormal dentin morphology, ... ORPHA:49042
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Kyphosis, Irregular epiphyses, Hypoplastic iliac wing, Lumbar hyperlord... OMIM:313400
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Absent radius, Triphalangeal thumb, Micrognathia, Hallux valgus, Hydrocephalus... OMIM:154400
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, Hypothyroidis... ORPHA:465508
Developmental And Epileptic Encephalopathy 49
Short philtrum, Open mouth, Ventriculomegaly, Thick upper lip vermilion, Hydrocephalus, Dandy-Wal... OMIM:617281
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Hydrocephalus OMIM:601794
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Hip subluxation, Metaphyseal irregularity, Delayed epiphyseal ossification, Elbow flex... ORPHA:93360
Bresek Syndrome
Cryptorchidism, Postaxial hand polydactyly, Neonatal death, Cleft palate, Decreased testicular si... ORPHA:85284
Trisomy 1Q
Cryptorchidism, Ambiguous genitalia, Preaxial hand polydactyly, Camptodactyly of finger, Narrow m... ORPHA:261344
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Platyspondyly, Camptodactyly of finger, Enlarged interphalangeal joints, En... OMIM:208230
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Hip dislocation OMIM:616756
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Atrial septal defect, Overlapping toe, Abnormal heart morphology, Ventriculomegaly... ORPHA:363444
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Elbow dislocation, Hypoplastic f... ORPHA:90652
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Cryptorchidism, Kyphosis, Clinodactyly, Short neck, Single transverse palmar crease ORPHA:178148
Arthrogryposis, Distal, Type 4
Scoliosis, Kyphosis, Deviation of the 2nd toe, Lumbar scoliosis, Camptodactyly, Fibular deviation... OMIM:609128
Hypomelanosis Of Ito
Scoliosis, Hand polydactyly, Kyphosis, Radial deviation of finger, Clinodactyly, Syndactyly OMIM:300337
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Widow'S Peak Syndrome
Cryptorchidism, Kyphosis, Narrow iliac wing, High iliac wing, Arthralgia of the hip, Abnormality ... OMIM:314570
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus, Abnormality of the endocrine system OMIM:210350
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly OMIM:613313
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Bowing of the long b... OMIM:611134
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Micrognathia, Fifth finger distal phalanx clinodactyly,... ORPHA:2839
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Ellis-Van Creveld Syndrome
Cryptorchidism, Delayed eruption of teeth, Genu valgum, Postaxial hand polydactyly, Talipes equin... OMIM:225500
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Kyphosis, Adducted thumb, Increased laxity of fingers, Spinal rigidity, Long toe, Slen... ORPHA:75840
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Testicular atrophy, Syndactyly, Toe syndactyly OMIM:601163
Heart Defects-Limb Shortening Syndrome
Abnormality of the metaphysis, Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of t... ORPHA:1354
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Meckel Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the tongue, Pancreatic fibrosis, Anencephaly, True hermaphr... ORPHA:564
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Tarsal synostosis, Narrow mouth, Abno... ORPHA:95699
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Anencephaly, Bowing of the legs, Lobulated tongue, Patent foram... OMIM:269860
Pseudotrisomy 13 Syndrome
Cryptorchidism, Median cleft lip and palate, Postaxial hand polydactyly, Adrenal hypoplasia, Tric... OMIM:264480
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia, Cleft lip ORPHA:563609
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Hypothyroidism, Thin upper lip vermilion, Syndac... OMIM:601005
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Camptodactyly of finger, Toe syndactyly, Abnormality of epiphysis morphology, Kyp... ORPHA:3409
Alpha-Mannosidosis
Scoliosis, Hip dysplasia, Hypoplastic inferior ilia, Kyphosis, Bowing of the long bones, Hepatome... ORPHA:61
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Finger syndactyly, Ventricular septal defect, Holoprosencephaly, Mandibul... ORPHA:1908
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Craniofacial Dyssynostosis
Short philtrum, Open mouth, Clinodactyly of the 5th finger, Abnormal oral cavity morphology, Micr... ORPHA:1516
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Anemia ORPHA:2598
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Slender toe, High palate, Arachnodactyly, Hydrocephalus OMIM:310400
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Emanuel Syndrome
Cryptorchidism, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Broad jaw, High... ORPHA:96170
Chromosome 17P13.1 Deletion Syndrome
Broad hallux, Long hallux, Short foot, High palate, Proximal placement of thumb, Elbow flexion co... OMIM:613776
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Cantu Syndrome
Short hallux, Long philtrum, Erlenmeyer flask deformity of the femurs, Hypoplastic ischiopubic ra... OMIM:239850
Meckel Syndrome, Type 1
Cryptorchidism, Natal tooth, Anencephaly, Lobulated tongue, Bile duct proliferation, Micrognathia... OMIM:249000
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis, Distal upper limb amyotrophy ORPHA:101075
Cold Agglutinin Disease
Hemolytic anemia, Back pain, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Fg Syndrome Type 1
Cryptorchidism, Open mouth, Dental crowding, High palate, Fused teeth, Micrognathia, Mitral valve... ORPHA:93932
Apert Syndrome
Cryptorchidism, Delayed eruption of teeth, Postaxial hand polydactyly, Narrow palate, Preaxial ha... OMIM:101200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Abnormality of fibula morphology, Hypothyroidi... ORPHA:1812
Distal Trisomy 5Q
Cryptorchidism, Thin vermilion border, Carious teeth, Long philtrum, Narrow mouth, Hypoplasia of ... ORPHA:96097
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Carpal bone hypoplasia, Severe carpal ossification dela... OMIM:184252
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Talipes equinovarus, Cutaneous syndactyly, Overlapping toe, Ventriculomegaly... OMIM:617822
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Carious teeth, Finger syndactyly, Microretrognathia, Abnormal palate morphology, ... ORPHA:1786
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... OMIM:129540
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Abnormally ossified vertebrae, Lower limb... ORPHA:3035
Dextrocardia
Situs inversus totalis, Abnormal reproductive system morphology, Hydrocephalus, Congenital hip di... ORPHA:1666
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Ventriculomegaly... ORPHA:1647
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Mucopolysaccharidosis, Type Vii
Genu valgum, Hydrocephalus, Abnormal heart valve morphology, Abnormality of the dentition, Hepato... OMIM:253220
Central Precocious Puberty
Hydrocephalus, Increased circulating gonadotropin level, Premature thelarche, Isosexual precociou... ORPHA:759
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin, Hydrocephalus ORPHA:163596
49,Xxxxy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, M... ORPHA:96264
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Ventriculomegaly, Limb undergrowth, Decreased fibular dia... OMIM:616897
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Pettigrew Syndrome
Ventriculomegaly, Mandibular prognathia, Wide mouth, Thick vermilion border, Hydrocephalus, Dandy... OMIM:304340
Trisomy 17P
Macroglossia, Narrow mouth, Urethral valve, Wide mouth, Smooth philtrum, Thick vermilion border, ... ORPHA:261290
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Scoliosis, Macrodactyly, Sandal gap, Splenomegaly OMIM:612918
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Hip dysplasia, Cirrhosis, Atrial septal defect, Ventricular septal defect, Ven... OMIM:614576
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Macroglossia, Metaphyseal widening, Metaphyseal irregularity, Flared ... OMIM:253200
Microphthalmia, Syndromic 9
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal de... OMIM:601186
Hamamy Syndrome
Hip dysplasia, Cryptorchidism, Hypochromic anemia, Long philtrum, Atrial septal defect, Microcyti... OMIM:611174
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Metaphyseal irregularity, Rhizomelia, Irregular epiphyses, 2-3 toe syndacty... OMIM:618162
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Ventriculom... ORPHA:244
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Abnormality of the mouth, Decreased fertility OMIM:313200
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Acalvaria
Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate, Hydrocephalus ORPHA:945
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Immunodeficiency 32B
Splenomegaly OMIM:226990
Ruvalcaba Syndrome
Scoliosis, Cryptorchidism, Abnormality of vertebral epiphysis morphology, Synostosis of carpal bo... ORPHA:3121
Dyggve-Melchior-Clausen Syndrome, X-Linked
Scoliosis, Hypoplastic sacrum, Platyspondyly, Distal ulnar hypoplasia, Genu valgum, Hypoplastic p... OMIM:304950
Kleeblattschaedel
Elbow ankylosis, Hydrocephalus OMIM:148800
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Pseudoaminopterin Syndrome
Cryptorchidism, Clubbing of fingers, Hip subluxation, Postaxial polydactyly, Oral cleft, Clinodac... ORPHA:221120
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Ascites, Anemia, Splenomegaly ORPHA:1046
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis, Clinodactyly of the 5th finger ORPHA:3454
Mucopolysaccharidosis, Type Iva
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Constricted iliac wing, Ovoid vertebral bod... OMIM:253000
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Femur fracture, Pancytopenia, Thrombocytopenia, Hepatomegaly, Coxa vara, Flared me... OMIM:259700
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Abnormality of femur morphology, Enlarged kidney, Abnormal form of t... ORPHA:464329
Achondroplasia
Thoracolumbar kyphosis, Limited elbow extension, Short proximal phalanx of finger, Cervical spina... ORPHA:15
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormal vertebral morphology, Abnormality of epiphysis morphology, Rhizomelia, Ky... ORPHA:35173
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Abnorm... ORPHA:3082
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Kyphosis, Small hand, Slender finger, Short foot, Clinodactyly of the 5th finger OMIM:618443
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Uln... OMIM:215140
Trisomy 8P
Cryptorchidism, Thin vermilion border, Short fifth metatarsal, 3-4 finger cutaneous syndactyly, C... ORPHA:264450
Fried Syndrome
High palate, Short philtrum, Hydrocephalus ORPHA:85335
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus, Abnormal heart morphology ORPHA:2185
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Micrognathia, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomeg... OMIM:259720
Hec Syndrome
Vaginal hydrocele, Endocardial fibroelastosis, Communicating hydrocephalus, Cardiomyopathy ORPHA:2119
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Broad palm, Kyphosis, Macroorchidism, Tapered finger, Short palm OMIM:300602
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Mucopolysaccharidosis Type 7
Scoliosis, Epiphyseal stippling, Anterior beaking of lumbar vertebrae, Hepatitis, Metatarsus addu... ORPHA:584
Opitz-Kaveggia Syndrome
Cryptorchidism, Narrow palate, Broad thumb, Dental crowding, Split hand, Camptodactyly, Prominent... OMIM:305450
Aase-Smith Syndrome I
Open mouth, Ventricular septal defect, Slender finger, Cleft palate, Talipes equinovarus, Hydroce... OMIM:147800
Wolfram Syndrome 1
Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Proteus Syndrome
Lymphangioma, Kyphoscoliosis, Spinal canal stenosis, Splenomegaly OMIM:176920
Sialidosis Type 2
Hepatomegaly, Kyphosis, Ascites, Splenomegaly ORPHA:87876
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
48,Xxxy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, M... ORPHA:96263
H Syndrome
Azoospermia, Microcytic anemia, Amenorrhea, Enlarged kidney, Camptodactyly, Histiocytosis, Delaye... ORPHA:168569
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates, Metaphyseal dysplasia, Brachyd... OMIM:234250
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Genu valgum, Flared iliac wing, Kyphosis, Abnormality of the hand, Shor... OMIM:252605
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Platyspondyly, Genu valgum, Abnormality of epiphysis morphology, Kyphosis, Coxa vara, ... ORPHA:93314
Dandy-Walker Malformation With Postaxial Polydactyly
Postaxial hand polydactyly, Microretrognathia, Dilated fourth ventricle, Aortic valve stenosis, H... OMIM:220220
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Cryptorchidism, Kyphosis, Polycystic ovaries, Short toe, Decreased testicular size... ORPHA:3085
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Short philtrum, Ventriculomegaly, Diastema, High palate, Micrognathia, Hydrocepha... OMIM:609757
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Mucopolysaccharidosis Type 6
Genu valgum, Ovoid vertebral bodies, Kyphosis, Splenomegaly, Abnormality of the metaphysis, Short... ORPHA:583
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Long philtrum, Femoral bowing, Rocker bottom foot, Humeroradial synostosis, Atrial septal defect,... OMIM:207410
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Edinburgh Malformation Syndrome
Thin vermilion border, Narrow mouth, Downturned corners of mouth, Slender finger, Ulnar deviation... ORPHA:1895
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Anencephaly, Decreased testicular size, Micropenis, Hydrocephalus, Dandy-Walker... OMIM:615287
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Ambiguous genitalia, Hypoplasia of the premaxilla, Postaxial hand polydactyly, Na... ORPHA:2166
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Abnormality of neutrophils, P... OMIM:169400
Bruck Syndrome 1
Scoliosis, Platyspondyly, Protrusio acetabuli, Kyphosis, Coxa vara, Talipes equinovarus, Elbow fl... OMIM:259450
Schaaf-Yang Syndrome
Scoliosis, Cryptorchidism, Rocker bottom foot, Kyphosis, Camptodactyly, Narrow palm, Clinodactyly... OMIM:615547
Yunis-Varon Syndrome
Cryptorchidism, Thin vermilion border, Slender long bones with narrow diaphyses, Metatarsus adduc... ORPHA:3472
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Clinodactyly of the 5th toe, Leukopen... ORPHA:108
Acrocallosal Syndrome
Cryptorchidism, Thin vermilion border, Hypoplasia of teeth, Open mouth, Rectovaginal fistula, Tri... OMIM:200990
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Abnormal dental enamel morphology, Mandibular prognathia, Abnormality of the meta... ORPHA:2658
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Congenital hip dislocation, Dislocation of toes, Camptodactyly of toe, Broad palm, Kyp... OMIM:300280
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... OMIM:616278
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Short philtrum, Rocker bottom foot, Short 5th finger, Atrial septal defect, Ventr... ORPHA:163979
Qazi-Markouizos Syndrome
Cryptorchidism, Hypoplasia of teeth, Open mouth, Broad philtrum, Drooling, Delayed ossification o... ORPHA:3010
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Holt-Oram Syndrome
Scoliosis, Broad thumb, Radioulnar synostosis, Finger syndactyly, Split hand, Kyphosis, Down-slop... ORPHA:392
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Constricted iliac wing, Ovoid vertebral bod... OMIM:253010
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis, Arachnodactyly OMIM:300676
Fanconi Anemia
Cryptorchidism, Bicornuate uterus, Anemia, Leukopenia, High palate, Micrognathia, Triphalangeal t... ORPHA:84
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Hypergonadotropic hypogonadism, Ventriculomegaly, Thrombocytopenia, Ap... OMIM:300514
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Broad distal phalanx of finger, Kyphosis, Postaxial polydactyly, Sacral... OMIM:615761
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Gómez-López-Hernández Syndrome
Thin vermilion border, Hydrocephalus ORPHA:1532
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Hurler Syndrome
Flared iliac wing, Endocardial fibroelastosis, Cardiomyopathy, Enlarged tonsils, Thick vermilion ... OMIM:607014
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Neuraminidase Deficiency
Bone-marrow foam cells, Epiphyseal stippling, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly,... OMIM:256550
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Hi... OMIM:308700
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Abnormal heart morphology, Camptodactyly, Arachnodactyly,... ORPHA:314588
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Increased size of nasopha... ORPHA:457395
Hydrocephalus With Associated Malformations
Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, Hydrocephalus OMIM:236640
6P22 Microdeletion Syndrome
Clinodactyly, Abnormal palate morphology, Hydrocephalus, Finger syndactyly ORPHA:251046
Vacterl Association With Hydrocephalus
Radial club hand, Stillbirth, Abnormal heart morphology, Aqueductal stenosis, Absent thumb, Hydro... OMIM:276950
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Broad palm, Kyphosis, Macroorchidism, Tapered finger, Short palm OMIM:300431
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis, Shoulder dislocation, Adducted thumb, Arachnodactyly ORPHA:2181
Neonatal Lupus Erythematosus
Hemolytic anemia, Hydrocephalus, Abnormal heart morphology, Neutropenia, Pancytopenia, Thrombocyt... ORPHA:398124
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Metaphyseal chondrodysplasia, Rhizomelia, Metaphyseal cupping of metacarpals, Hyp... ORPHA:163966
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Mucopolysaccharidosis Type 1
Thick lower lip vermilion, Abnormality of epiphysis morphology, Widely spaced teeth, Split hand, ... ORPHA:579
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Shoulder flexion contracture, Congenital finger flexion contractures, K... ORPHA:536516
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Atrial septal def... ORPHA:2655
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Hydrocephalus, Anemia OMIM:619302
Shashi-Pena Syndrome
Scoliosis, Deep palmar crease, Kyphosis OMIM:617190
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia in... ORPHA:94068
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, Sandal gap, High palate, Brachydactyly,... ORPHA:2180
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis, Hallux valgus, Broad proximal phalanges of the hand ORPHA:505652
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis... OMIM:184253
Mend Syndrome
Overlapping fingers, Cryptorchidism, Hand polydactyly, Overlapping toe, Abnormal heart morphology... ORPHA:401973
Adams-Oliver Syndrome
Absent hand, Cirrhosis, Finger syndactyly, Split hand, Abnormality of the metacarpal bones, Throm... ORPHA:974
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Hip dysplasia, Scapular winging, Kyphosis, Metatarsus adductus, Clinoda... OMIM:181405
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Split foot, Spina bifida occulta, Myelomeningocele, Hydr... OMIM:183802
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804