Gene Summary

Name:
EMSY, BRCA2-interacting transcriptional repressor
Synonyms:
2210018M11Rik

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
preweaning lethality, complete penetrance Emsyem1(IMPC)Ccpcz HOM   Early adult 0.00
increased NK cell number Emsyem1(IMPC)Ccpcz HET Early adult 1.49×10-07
enlarged testis Emsyem1(IMPC)Ccpcz HET Early adult 0.00
vertebral transformation Emsyem1(IMPC)Ccpcz HET   Early adult 9.30×10-05
abnormal kidney morphology Emsyem1(IMPC)Ccpcz HET Early adult 0.00
abnormal epididymis morphology Emsyem1(IMPC)Ccpcz HET Early adult 0.00
enlarged heart Emsyem1(IMPC)Ccpcz HET Early adult 0.00
abnormal heart morphology Emsyem1(IMPC)Ccpcz HET Early adult 0.00
abnormal seminal vesicle morphology Emsyem1(IMPC)Ccpcz HET Early adult 0.00
abnormal testis morphology Emsyem1(IMPC)Ccpcz HET Early adult 0.00
impaired glucose tolerance Emsyem1(IMPC)Ccpcz HET Early adult 9.72×10-06
enlarged epididymis Emsyem1(IMPC)Ccpcz HET Early adult 0.00
small seminal vesicle Emsyem1(IMPC)Ccpcz HET Early adult 0.00
short tibia Emsyem1(IMPC)Ccpcz HET Early adult 7.64×10-05
increased red blood cell distribution width Emsyem1(IMPC)Ccpcz HET   Early adult 8.60×10-07
increased kidney weight Emsyem1(IMPC)Ccpcz HET   Early adult 3.01×10-05

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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 Whole Body Dorso Ventral

28 Images

X-ray

XRay Images Hind Leg and Hip

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Human diseases caused by Emsy 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 Emsy by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Macroorchidism, Cardiomegaly OMIM:300886
Megalencephaly
Genu valgum, Long penis, Short neck, Atrial septal defect, Macroorchidism ORPHA:2477
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Mental retardation, x-linked, syndromic, Turner type
Tapered finger, Macroorchidism OMIM:300706
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t... OMIM:612447
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis ORPHA:3000
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Fragile X Syndrome
Congenital macroorchidism, Metacarpophalangeal joint hyperextensibility, Scoliosis, Macroorchidis... OMIM:300624
Clark-Baraitser syndrome
Genu valgum, Genu recurvatum, Scoliosis, Tapered finger, Kyphosis, Short palm, Macroorchidism OMIM:300602
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Arachnodactyly, Micrognathia, Brachydactyly, Atrial septal de... ORPHA:776
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hypospadias, Hepatomegaly, Anemia of inadequate production, Persisten... OMIM:613673
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocyto... OMIM:615631
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Hypoplasia of the radius, Tarsal synost... OMIM:112910
Femoral-Facial Syndrome
Abnormal fibula morphology, Renal hypoplasia/aplasia, Maternal diabetes, Long penis, Polycystic k... ORPHA:1988
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Partington Syndrome
Macroorchidism ORPHA:94083
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Aortic val... ORPHA:324410
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Hepatomegaly, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic... OMIM:620076
Xp22.13P22.2 Duplication Syndrome
Scoliosis, 2-3 toe syndactyly, Tapered finger, Short neck, Polycystic ovaries, Macroorchidism, Sm... ORPHA:284180
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Meckel Syndrome, Type 8
Polydactyly, Enlarged kidney, Ambiguous genitalia, Polycystic kidney dysplasia, Pericardial effus... OMIM:613885
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Fragile X Syndrome
Pes planus, Scoliosis, Macroorchidism, Mitral valve prolapse ORPHA:908
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Short tibia, ... OMIM:607143
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Pes cavus, Scoliosis, Micrognathia, Short neck, Male hypogonadism, Macroorchidism... OMIM:300055
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Trisomy 20P
Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Kyphosis, Multiple renal cys... ORPHA:261318
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Kyphoscoliosis, Macroorchidism ORPHA:3077
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Short ribs, Femoral bowing, Short long bone, Absent tibia, Cone-shaped epiphysis... OMIM:613091
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... ORPHA:90301
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Ethanolaminosis
Cardiomegaly OMIM:227150
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Broad thumb, Aplasia/hypoplasia of the humerus, Absent radius, Adducted th... ORPHA:3320
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Type II diabet... OMIM:616860
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, 3-Methylglutaconic aciduria, Hepatomegaly, Camptodactyly, Renal hypoplasia, A... OMIM:604273
47,Xyy Syndrome
Finger clinodactyly, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating... ORPHA:8
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Slc35A2-Cdg
Transient nephrotic syndrome, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus... ORPHA:356961
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Organic aciduria, Poikilocytosis, Sid... OMIM:301310
Microphthalmia With Limb Anomalies
Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Broad thumb, H... ORPHA:1106
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Orotic Aciduria
Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Mccune-Albright Syndrome
Abnormal femur morphology, Renal phosphate wasting, Pancytopenia, Scoliosis, Abnormal testis morp... ORPHA:562
Dominant Beta-Thalassemia
Genu valgum, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscular hemogl... ORPHA:231226
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Trans... OMIM:314390
Aromatase Deficiency
Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enlarged polycystic o... ORPHA:91
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Polyembryoma
Isosexual precocious puberty, Abnormal sacrum morphology, Macroorchidism ORPHA:180229
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hypertrophi... OMIM:619902
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Adducted thumb, Hypospadias, Mitral valve prolapse, Macroorchidism OMIM:618874
Orofaciodigital Syndrome Type 10
Metatarsal synostosis, Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm sh... ORPHA:2756
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Anemia, Abnormal form of... ORPHA:464329
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Small scrotum, Sex reversal, Fibular bowi... OMIM:612651
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Broad thumb, Arachnodactyly, Micrognathia, Atrial septal... OMIM:309520
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short tibia, ... OMIM:616300
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia, Abnormalit... OMIM:307500
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly, Short femur, Short tibia, Talipes equinovarus OMIM:620306
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Polycystic kidney dys... OMIM:263520
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy... OMIM:618280
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m... ORPHA:1916
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Anemia, Abnormal tibia morphology, Abnorma... ORPHA:3344
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Short... OMIM:258315
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Hypospadias, Labial hypoplasia, Dislocated ra... OMIM:164745
Hemochromatosis, Type 1
Hepatomegaly, Glucose intolerance, Azoospermia, Cardiomyopathy, Diabetes mellitus, Splenomegaly, ... OMIM:235200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Impaired glucose tolerance, Decreased numbe... OMIM:137920
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Sacral dimple, Kyphosis, Micrognathia, Nephroblastoma OMIM:618272
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Adducted thumb, Hypospadias, Cardiomegaly, Flared metaphysis, Short ribs, Hypertrophic cardiomyop... OMIM:616897
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Diaphanospondylodysostosis
Enlarged kidney, Lumbosacral meningocele, Hammertoe, Talipes equinovarus, Nephroblastomatosis, Ab... OMIM:608022
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, Enlarged kidney, Scoliosis, Foot polydactyly, 2-4 toe syndactyly, Nephroblastoma, O... ORPHA:276280
H Syndrome
Abnormality of the kidney, Enlarged kidney, Azoospermia, Hallux valgus, Camptodactyly, Decreased ... ORPHA:168569
Beckwith-Wiedemann Syndrome
Enlarged kidney, Neonatal hypoglycemia, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux... OMIM:130650
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Acetabular dysplasia, Anemia, Hepatomegaly, Clubbing, Focal segmental glomerulos... OMIM:617303
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Prostate cancer, Acute lymphoblas... ORPHA:158057
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Meacham Syndrome
Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a... OMIM:608978
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Short hallux, Hypoplastic ischiopubic ramus, Pericardial eff... OMIM:239850
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Femoral bowing, Tr... OMIM:615415
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Aspartylglucosaminuria
Beaking of vertebral bodies, Spondylolysis, Hepatomegaly, Spondylolisthesis, Vacuolated lymphocyt... OMIM:208400
49,Xxxyy Syndrome
External genital hypoplasia, Finger clinodactyly, Abnormality of the testis size, Bilateral talip... ORPHA:261534
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia... ORPHA:96334
49,Xyyyy Syndrome
Large carpal bones, External genital hypoplasia, Abnormality of the epiphyses of the elbow, Finge... ORPHA:99330
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Pes cavus, Left atrial enlargement, Scoliosis, Ventricular hypertrophy, Dislocati... OMIM:300280
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Finger synda... ORPHA:1788
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Butterfly vertebrae, Hypoplasia of the radius, Renal hypoplasia/aplasia, ... ORPHA:958
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Short ribs, Femoral bowing, Short long ... OMIM:618188
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Cryptorchidism OMIM:218550
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Short long bone, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right a... OMIM:306955
Infantile Sialic Acid Storage Disease
Abnormal foot morphology, Hepatomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Splenomegaly,... OMIM:269920
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P... OMIM:618278
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Absent radius, Epiphyseal stippling of the hume... ORPHA:56305
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Unicornuate uterus, Split foot, Hip dislocation, Hypoplasia of the ulna, Butterfl... OMIM:200980
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s... OMIM:252500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Atrioventricular canal defect, Cone-shaped epiphyses of the phalanges of the... ORPHA:2751
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Abnormal foot morphology, Tapered toe, Hepatomegaly, Long-... OMIM:608836
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Tibial bowing, Mitral ... ORPHA:500095
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Aplasia of the uterus, Femoral bowing, Broad thumb, Bilateral radial aplasi... OMIM:274000
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Thyroid hypoplasia, Delayed proximal femoral epiphyseal ossification, A... ORPHA:90674
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Tibial bowing, Fe... ORPHA:93356
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste... OMIM:602782
Aspartylglucosaminuria
Beaking of vertebral bodies, Abnormal vertebral morphology, Anterior beaking of lumbar vertebrae,... ORPHA:93
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre... ORPHA:85188
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Abnormal cellular immune system morphology, Bifid scrotum, Abnor... ORPHA:199310
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, Sacral dimple, 2-3 toe cutaneous syndactyly, Pes valgu... OMIM:206920
Acromesomelic Dysplasia 3
Radial deviation of finger, Aplasia of the proximal phalanx of the 2nd finger, Elevated circulati... OMIM:609441
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... OMIM:263200
Alg9-Cdg
Narrow greater sciatic notch, Enlarged kidney, Hypoplasia of the ovary, Short long bone, Abnormal... ORPHA:79328
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... OMIM:108720
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide distal femoral metaphysis, Cardiomegaly, Delayed epiphyseal ossification, Metaphyseal cuppin... OMIM:613320
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Hyperechogenic pancreas, Atrial septal defect, Hepatomeg... OMIM:208540
Seckel Syndrome 1
Clitoral hypertrophy, Talipes, Hypospadias, Sandal gap, Pancytopenia, Dislocated radial head, Con... OMIM:210600
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Immunodeficiency 102
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De... OMIM:301082
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath... OMIM:256550
Congenital Myopathy 8
Cardiomegaly, Scoliosis OMIM:618654
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
Campomelic Dysplasia
Fibular hypoplasia, Ambiguous genitalia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Sc... ORPHA:140
Sickle Cell Disease
Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenome... OMIM:603903
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
46,Xy Sex Reversal 10
Gonadal dysgenesis, Perineal hypospadias, Hypospadias, Ovotestis, Bifid scrotum, Decreased testic... OMIM:616425
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Lumbar kyphosis, Heavy proteinuria, Patent foramen ovale, Thoracic kypho... ORPHA:505248
Acquired Partial Lipodystrophy
Glomerulopathy, Lymphocytosis, Microscopic hematuria, Proteinuria, Insulin resistance ORPHA:79087
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Congenital Toxoplasmosis
Cardiomegaly, Thrombocytopenia, Hepatomegaly, Anemia ORPHA:858
Leprechaunism
Enlarged kidney, Clitoral hypertrophy, Long foot, Hyperinsulinemia, Postprandial hyperglycemia, L... ORPHA:508
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Sandal gap, Bicuspid aortic valve, Cardiomegaly, Perime... OMIM:300855
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Postaxial hand polydactyly, Polysplenia, Micromelia, Short neck, P... OMIM:200995
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Scoliosis, Hyperlordosis, Prominent fingertip pads, Tapered finger, Precocious pub... OMIM:619950
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Biconvex vertebral bodies, Hypoplastic iliac wing, Tibial bowing, Short long bone, Biconcave vert... ORPHA:93315
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregular sclerotic endplates, ... OMIM:602111
Cantú Syndrome
Abnormal metaphysis morphology, Deep plantar creases, Cardiomegaly, Short hallux, Finger syndacty... ORPHA:1517
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Upper limb u... OMIM:236680
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Floating-Harbor Syndrome
Kyphoscoliosis, Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial... OMIM:136140
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232220
Phocomelia, Schinzel Type
Aplasia/Hypoplasia of the sacrum, Hypoplasia of the radius, Fibular aplasia, Abnormal tibia morph... ORPHA:2879
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy ORPHA:85447
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Short ribs, Cardiomyo... OMIM:312870
Proteus Syndrome
Macrodactyly, Enlarged kidney, Abnormal form of the vertebral bodies, Abnormal finger morphology,... ORPHA:744
Von Hippel-Lindau Disease
Myocarditis, Distal lower limb muscle weakness, Elevated urinary catecholamine level, Neoplasm of... ORPHA:892
Mogs-Cdg
External genital hypoplasia, Hepatomegaly, Left ventricular hypertrophy, Thrombocytopenia, Hepato... ORPHA:79330
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... OMIM:620430
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Polycythemia, Papillary cystade... OMIM:193300
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Sandal gap, Hyperlordosis, Prominent fingertip pads, Short lower limbs, Abnormal... OMIM:615873
Cystic Echinococcosis
Hepatomegaly, Abnormality of the vertebral column, Splenic cyst, Peritoneal abscess, Abnormality ... ORPHA:400
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Diabetes mellitus, Hyperglycemia, Splenomegaly, Hypogonadotropic hy... ORPHA:465508
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly, Cardiomegaly OMIM:613576
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Abnormal form of ... ORPHA:3144
Floating-Harbor Syndrome
Kyphoscoliosis, Mesocardia, Dislocated radial head, Short metacarpal, Nephrocalcinosis, Congenita... ORPHA:2044
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Lethal Congenital Contracture Syndrome 10
Adducted thumb, Short long bone, Femoral bowing, Hypoplasia of the thymus, Micrognathia, Overridi... OMIM:617022
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal... ORPHA:116
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Igg4-Related Kidney Disease
Enlarged kidney, Pericarditis, Urinary bladder inflammation, Acute kidney injury, Abnormal ureter... ORPHA:449395
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Recurrent hypog... OMIM:212140
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Talipes equinovarus, Cryptorchidism, Mesomelic leg shortening, Syndactyly, H... OMIM:603671
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Splenomegaly, Cardiom... OMIM:252920
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia, Anemia OMIM:618838
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Hepatomegaly, Clinodactyly of the 5th finger, Cardiomegaly, Scoliosis, Shor... OMIM:618143
Cousin Syndrome
Ambiguous genitalia, male, Dislocated radial head, Hypoplastic iliac wing, Hypoplastic ischia, An... OMIM:260660
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Absent frontal sinuses, Pericardial constriction, Hypoplastic frontal... OMIM:253250
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Sandal gap, Enlarged metaphyses, Dislocated radial head, Mitral valve prolapse, Left ventricular ... OMIM:245600
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... ORPHA:860
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Enlarged kidney, Hepatomegaly, Anemia, Tubulointerstitial fibrosis, Chroni... ORPHA:79259
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Charge Syndrome
Absent tibia, Pulmonic stenosis, Lymphopenia, Absent radius, Bifid femur, Dysplastic tricuspid va... OMIM:214800
Mody
Abnormality of the kidney, Neonatal hypoglycemia, Pancreatic hypoplasia, Hypoinsulinemia, Renal c... ORPHA:552
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, Ca... ORPHA:1359
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia, Micropenis, Overla... OMIM:615966
Fucosidosis
Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Anterior beaking of lumbar v... OMIM:230000
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the tibia, Hypopituitar... ORPHA:1827
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Anemia, Glomerular scl... OMIM:276700
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Hepatomegaly OMIM:609981
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera... ORPHA:251004
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Otopalatodigital Syndrome Type 2
Flared iliac wing, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Fibular aplas... ORPHA:90652
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Cone-shaped epiphysis, Hyp... OMIM:210720
Yunis-Varon Syndrome
Rocker bottom foot, Clitoral hypertrophy, Absent sternal ossification, Abnormal finger morphology... ORPHA:3472
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femo... OMIM:114290
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia OMIM:600649
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Scoliosis, Oligosacchariduria ORPHA:3137
Dent Disease 1
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ... OMIM:300009
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypoglycemia, Hypertrophic cardiomyopathy OMIM:614702
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Neonatal hypoglycemia, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial ... OMIM:261740
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Fasting hypoglycemia, Nephro... OMIM:232200
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Refsum Disease, Classic
Pes cavus, Cardiomyopathy, Short fourth metatarsal, Abnormal renal physiology, Cardiomegaly OMIM:266500
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma, Cardiomegaly, Pedal edema ORPHA:615
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia,... OMIM:601005
Ulbright-Hodes Syndrome
Clitoral hypertrophy, Short ribs, Short metacarpal, Mesomelia, Short humerus, Abnormal forearm bo... ORPHA:3404
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count... ORPHA:79124
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Precocious puberty, Micrognathia, Cardiomegaly, Cryptorc... ORPHA:96191
Congenital Erythropoietic Porphyria
Increased urinary porphobilinogen, Purple urine, Porphyrinuria, Red-brown urine, Reticulocytosis,... ORPHA:79277
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Spl... ORPHA:158061
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Short ribs, Femoral bowing, Tibial bowing, Sho... OMIM:304120
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Seckel Syndrome 10
Slender long bone, Ventricular hypertrophy, Impaired glucose tolerance, Glycosuria, Diabetes mell... OMIM:617253
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Pat... OMIM:228520
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hepatomegaly, Hypoglycemia, Cardiomegaly, Elevated urinary 3-hydroxybutyri... ORPHA:42
Insulin-Resistance Syndrome Type B
Leukopenia, Fasting hyperinsulinemia, Postprandial hyperglycemia, Hyperinsulinemia, Nephritis, Hy... ORPHA:2298
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... OMIM:208500
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Occipital Horn Syndrome
Large iliac wing, Kyphosis, Absent tibia, Aplasia/hypoplasia of the humerus, Aplastic clavicle, C... ORPHA:198
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Atrial septal defect, Hallux valgus, Scoliosis, Patent foramen ovale, Left ventri... OMIM:300967
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell cou... OMIM:308240
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Scoliosis, Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Talipes equinovarus... OMIM:619752
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Hypoglycemia, Abnormal concentration of acylcarnitine ... ORPHA:391428
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Long-Olsen-Distelmaier Syndrome
Hypoglycemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular se... OMIM:620609
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Hepatomegaly, Iron deficiency anemia, Lymphocytosis... ORPHA:1667
Pgm3-Cdg
Decreased/absent ankle reflexes, Decreased proportion of CD3-positive T cells, Neutropenia in pre... ORPHA:443811
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Dislocated radial head, Tibial bowing, Vent... OMIM:143095
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Leukocytosis, Incr... OMIM:620376
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Acute Monoblastic/Monocytic Leukemia
Ankle swelling, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Oliguria, Hypochro... ORPHA:514
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Small scrotum, Increased densit... OMIM:269150
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy,... OMIM:201475
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia,... ORPHA:228308
Immunodeficiency 9
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia OMIM:612782
Orofaciodigital Syndrome Type 4
Renal hypoplasia/aplasia, Rectovaginal fistula, Finger syndactyly, Monorchism, Perineal fistula, ... ORPHA:2753
Immunodeficiency 43
Lung abscess, Hypoplasia of the ulna, B lymphocytopenia, Radial bowing, Reduced natural killer ce... OMIM:241600
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Pes cavus, Unilateral renal agenesis, Clinodactyly of the 2nd finger, Broad middle phalanx of fin... ORPHA:221139
Lymphoid Interstitial Pneumonia
Enlarged kidney, Clubbing, Hepatomegaly ORPHA:79128
Fucosidosis
Anterior beaking of lumbar vertebrae, Hepatomegaly, Kyphosis, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... ORPHA:158048
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia, Renal tubular acidosis, Cardiomega... OMIM:255120
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Car... ORPHA:439
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pes cavus, Spinal rigidity, Limited knee flexion/extension, Calf muscle hypertrophy, Hyperlordosi... ORPHA:268
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells... ORPHA:276
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:618108
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal heart valve morphology, Scoliosis, Ventricular septal defect, Aor... ORPHA:363705
Williams Syndrome
Abnormal form of the vertebral bodies, Hypoplasia of penis, Hyperlordosis, Kyphosis, Pulmonic ste... ORPHA:904
Gaucher Disease, Type Iiic
Pes cavus, Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly,... OMIM:231005
Mesomelia-Synostoses Syndrome
Narrow foot, Abnormal vertebral morphology, Carpometacarpal synostosis, Short metatarsal, Metacar... OMIM:600383
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Long foot, Thin metacarpal cortices, Lumbar hemivertebrae, Slender long bone, Thin metatarsal cor... ORPHA:2463
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Beck-Fahrner Syndrome
Cardiomegaly, Pes planus, Ventricular septal defect, Hip dysplasia OMIM:618798
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Flexion contracture of toe, Cardiomegaly, Clubbing of fingers, Parotitis, Impaired ... OMIM:256040
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hypoglycemia, Micrognathia, Hydronephrosis, Cardiomegaly, Dilated cardiomyopathy, V... OMIM:614921
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet... OMIM:608233
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Camptodactyly of toe, 2-3 ... ORPHA:158687
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomega... OMIM:619991
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Micrognathia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Mucopolysaccharidosis Type 3
Genu valgum, Abnormal aortic valve morphology, Hepatomegaly, Abnormal form of the vertebral bodie... ORPHA:581
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal defect ORPHA:137675
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Anoperineal fistula, Lymphocytosis, Dec... OMIM:301074
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Abnormal vertebral morphology, Fibular hyp... ORPHA:444077
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Scoliosis, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiom... ORPHA:51
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen... ORPHA:35078
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Micrognathia, Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Tibial Hemimelia
Absent tibia OMIM:275220
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Nephrot... ORPHA:911
Immunodeficiency 92
Hepatomegaly, Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytop... OMIM:619652
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hammertoe, Talipes equinovarus, Splenic cyst, Patent foramen ovale, Microretrognathia, Cardiomega... OMIM:620371
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy OMIM:105210
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Danon Disease
Pes cavus, Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, D... OMIM:300257
Abetalipoproteinemia
Kyphoscoliosis, Pes cavus, Distal lower limb muscle weakness, Hepatomegaly, Anemia, Reticulocytos... ORPHA:14
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphocytosis, Nephrotic syndrome, Eosinophilia, Renal insufficiency, Tubulointersti... ORPHA:139402
Naxos Disease
Right ventricular cardiomyopathy, Cardiomegaly, Diffuse palmoplantar hyperkeratosis, Abnormal mor... OMIM:601214
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Scoliosis, Renal hypoplas... OMIM:619297
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Hepatomegaly, ... OMIM:218330
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Metacarpophalangeal joint contracture, Micrognathia, Cardiomega... ORPHA:97297
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co... OMIM:243700
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytosis, Neutropenia in presence of anti-neutrop... ORPHA:3261
Dyskeratosis Congenita, Autosomal Recessive 8
B lymphocytopenia, Reduced natural killer cell count, Pancytopenia OMIM:620133
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... ORPHA:308552
Singleton-Merten Syndrome 1
Pes cavus, Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened me... OMIM:182250
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Glycogen Storage Disease Ii
Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly OMIM:232300
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Scoliosis, Arachnodactyly, Bicuspid aortic valve, Pes planus ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Scoliosis, Hyperlordosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy... ORPHA:365
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Immunodeficiency 82 With Systemic Inflammation
Anemia, Anoperineal fistula, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocy... OMIM:619381
Generalized Arterial Calcification Of Infancy
Fused cervical vertebrae, Abnormal calcification of the carpal bones, Medullary nephrocalcinosis,... ORPHA:51608
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:600802
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Myocardial calcification, Endocardial fibrosis, Right ventricular cardio... ORPHA:75565
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Emsy

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Emsy.

No publications found that use IMPC mice or data for Emsy.

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MGI Allele Allele Type Produced
Emsyem1(IMPC)Ccpcz Exon Deletion Mice
Emsytm173015(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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