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Gene: Fhip1b MGI:1921599

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Gene Summary

Name:
FHF complex subunit HOOK interacting protein 1B
Synonyms:
Fam160a2,  4632419K20Rik,  6530415H11Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 seminal vesicle morphology Fhip1bem1(IMPC)Tcp HOM Late adult 0.00
enlarged urinary bladder Fhip1bem1(IMPC)Tcp HOM Late adult 0.00
abnormal sternum morphology Fhip1bem1(IMPC)Tcp HOM Early adult 0.00
decreased lymphocyte cell number Fhip1bem1(IMPC)Tcp HOM Early adult 8.37×10-09
abnormal tooth morphology Fhip1bem1(IMPC)Tcp HOM Early adult 3.39×10-06
abnormal sternum morphology Fhip1bem1(IMPC)Tcp HOM Late adult 0.00
decreased exploration in new environment Fhip1bem1(IMPC)Tcp HOM Early adult 2.51×10-08
decreased exploration in new environment Fhip1bem1(IMPC)Tcp HOM Middle aged adult 9.50×10-07
abnormal stomach morphology Fhip1bem1(IMPC)Tcp HOM Late adult 0.00
decreased exploration in new environment Fhip1bem1(IMPC)Tcp HOM Late adult 9.99×10-06
enlarged heart Fhip1bem1(IMPC)Tcp HOM Late adult 0.00
abnormal ovary morphology Fhip1bem1(IMPC)Tcp HOM Late adult 0.00
abnormal pancreas morphology Fhip1bem1(IMPC)Tcp HOM Early adult 0.00
decreased fasting circulating glucose level Fhip1bem1(IMPC)Tcp HOM Early adult 1.39×10-06
increased anxiety-related response Fhip1bem1(IMPC)Tcp HOM   Early adult 4.03×10-05
decreased circulating alkaline phosphatase level Fhip1bem1(IMPC)Tcp HOM Late adult 7.15×10-05
increased neutrophil cell number Fhip1bem1(IMPC)Tcp HOM Early adult 5.66×10-10
decreased locomotor activity Fhip1bem1(IMPC)Tcp HOM Early adult 9.18×10-06
abnormal eye morphology Fhip1bem1(IMPC)Tcp 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 Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

96 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

149 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

86 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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Eye Morphology

Images Slit Lamp

36 Images

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Histopathology

Images

14 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Fhip1b 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 Fhip1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Neutropenia, Chronic Familial
Clubbing, Gingivitis, Clubbing of fingers, Periodontitis, Neutropenia, Premature loss of teeth OMIM:162700
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... ORPHA:208441
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Cardiomegaly ORPHA:88643
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Perlman Syndrome
Hepatomegaly, Micrognathia, Cryptorchidism, High, narrow palate, Hyperinsulinemia, Abnormal pancr... ORPHA:2849
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Oral ulcer, Athetosis, Leukopenia, Irritability, ... OMIM:229050
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo... ORPHA:281090
Trimethylaminuria
Splenomegaly, Depression, Anemia, Neutropenia OMIM:602079
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Gastric varix, Hepatocellular carcinoma OMIM:613490
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Satoyoshi Syndrome
Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ... ORPHA:3130
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short foot, Periodontitis, Compulsive behaviors, Reduction of neutrophil motility, ... OMIM:266265
Burkitt Lymphoma
Gastrointestinal hemorrhage, Hyperuricemia, Intestinal obstruction, Abnormality of the ovary ORPHA:543
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Down... OMIM:617052
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Ventricular hypertrophy, Congenital hip dislocation, Left atrial enlargement, Elev... OMIM:300280
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Gastroesophageal reflux, Atrial septal defect, Phocomelia, Microgastr... ORPHA:2538
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn... ORPHA:2975
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Abnormality of the dentition, 2-3 toe syndactyly, Irritabilit... ORPHA:391307
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Dila... ORPHA:2229
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome, High... OMIM:269920
Aceruloplasminemia
Refractory anemia, Diabetes mellitus, Ataxia, Akinesia, Abnormal pancreas morphology, Limb ataxia... ORPHA:48818
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate... OMIM:252920
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Confusio... OMIM:212140
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Hypospadias, Fractured radius, Ventricular septal defect, De... OMIM:616897
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Pyloric stenosis, Hyperammonemia ORPHA:664
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... OMIM:617100
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Ataxia-Telangiectasia
Diabetes mellitus, Ataxia, Polycystic ovaries, Gait disturbance, Type II diabetes mellitus, Cogni... ORPHA:100
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Anterior rib cupping, Exocrine pancreatic insufficiency, Metaphy... OMIM:617941
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly OMIM:613576
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... OMIM:615518
Congenital Myopathy 8
High palate, Cardiomegaly OMIM:618654
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Mental deterioration, Hyperalaninemia, Hyp... OMIM:619051
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Peritonitis, ... ORPHA:2686
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... ORPHA:2688
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Thin upper lip vermilion, Congenital hip dislocation, Ulnar deviation of the 3rd fi... ORPHA:456312
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Abnormal enteric nervous system morphology, Cardio... ORPHA:85451
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Dementia, Yellow-brown discolorat... ORPHA:1946
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre... ORPHA:100924
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Intestinal bleeding, Interstitial cardiac fib... ORPHA:90291
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Premature loss of teeth, Oral ulcer, Gingi... ORPHA:486
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Tapered finger, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux, Hip dyspla... OMIM:617219
Intrinsic Factor Deficiency
Reduced haptoglobin level, Absence of intrinsic factor OMIM:261000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin... OMIM:201475
Congenital Toxoplasmosis
Hepatomegaly, Cognitive impairment, Cardiomegaly ORPHA:858
Oslam Syndrome
Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu... ORPHA:2760
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Feingold Syndrome
Hallux valgus, Toe syndactyly, Micrognathia, Abnormality of the spleen, Deviation of the 2nd fing... ORPHA:1305
Cantu Syndrome
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... OMIM:239850
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hepatocellular carcinoma, Splenomegaly, Esophageal varix, Hypoalbumi... ORPHA:64743
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Oral ulc... ORPHA:169154
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxi... OMIM:226990
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Recurrent sinusitis, Thrombocytosis OMIM:619281
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyseal ossificat... OMIM:613320
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ... ORPHA:3138
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly OMIM:619064
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Hypoka... OMIM:174900
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:255120
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... OMIM:617237
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Noonan Syndrome 12
11 pairs of ribs, Decreased response to growth hormone stimulation test, Proximal placement of th... OMIM:618624
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice... OMIM:208500
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Microglossia, Thickene... OMIM:253250
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Depression, Hip dysplasia, High palate, Attention defici... OMIM:618798
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Overlapping toe, Rocker bottom foot, Ataxia, Tapered finger, ... ORPHA:488642
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal thumb morphology, Protruding tongue, Abnormal atrioventricular valve morph... ORPHA:324410
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi... OMIM:618986
Bronchogenic Cyst
Abnormal pericardium morphology, Abnormal stomach morphology, Dysphagia, Abnormal myocardium morp... ORPHA:2357
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Dementia, ... ORPHA:101096
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian t... ORPHA:722
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morp... ORPHA:234
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Fe... OMIM:617022
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Anorexia, Thrombocytopenia... OMIM:557000
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... ORPHA:220460
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Hypogonadotropic... ORPHA:465508
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, High palate, Neutropenia, Lymphopenia, Reduced... OMIM:619752
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl... OMIM:256300
Müllerian Aplasia And Hyperandrogenism
Cleft palate, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Bra... ORPHA:247768
Hemochromatosis, Type 3
Anemia, Lymphopenia, Cirrhosis, Neutropenia OMIM:604250
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala... OMIM:608836
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Rectal prolapse, Clubbing, Multiple gastric polyps, Abnormality of the ... OMIM:175200
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... ORPHA:42
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... OMIM:256550
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Cryptorchidism, Pyloric stenosis, Small hand, Cleft palate, Short foot, High ... ORPHA:96184
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth,... OMIM:269300
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... OMIM:181450
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L... OMIM:186500
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Diabetes mellitus, Confusion, Leukocytosis, Leukopenia, Addictive alcohol use, Leth... ORPHA:36238
Bardet-Biedl Syndrome 1
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol... OMIM:209900
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis, Broad hallux, Broad thumb OMIM:300406
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, I... OMIM:275350
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Pycnodysostosis
Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary teeth, Delayed er... OMIM:265800
Autosomal Dominant Centronuclear Myopathy
Urinary incontinence, Cryptorchidism, Pyloric stenosis, Thin ribs, Mildly elevated creatine kinase ORPHA:169189
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, A... OMIM:616263
Periventricular Nodular Heterotopia
Pyloric stenosis, Shoulder dislocation, Abnormal heart valve morphology, Gastroesophageal reflux ORPHA:98892
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Hypocalcemia, Tetralogy of Fallot,... OMIM:601005
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Lymphangiectasia, Intestinal
Lymphopenia, Prominent floating ribs OMIM:152800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, High, narrow palate, Femoral bowing, Anteriorly placed a... ORPHA:95699
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Clinodactyly, Radial deviation of finger OMIM:188025
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis, Congenital hip dislocation, Short 5th finger, Rocker bottom foot OMIM:133705
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomy... OMIM:266500
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... ORPHA:57777
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Oral ulcer, Thrombocytopenia OMIM:616744
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Diabetes mellitus, Ataxia, Cryptorchidism, Insulin resistance, Tooth malpositio... OMIM:616541
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Horseshoe kidney OMIM:218350
Bohring-Opitz Syndrome
Syndactyly, Bilateral cleft palate, Overlapping toe, Supernumerary nipple, Tapered finger, Microg... OMIM:605039
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Neutropenia, Oral ulcer, Hepatocel... OMIM:232220
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... OMIM:615503
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Premature loss of t... OMIM:224300
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Trisomy 18P
Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Abnormal finger morphology, Atte... ORPHA:1715
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phalanx of finger, Broad met... ORPHA:508533
Hereditary Chronic Pancreatitis
Diabetes mellitus, Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Hsd10 Disease, Infantile Type
Cardiomegaly, Gastrointestinal dysmotility, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopath... ORPHA:391428
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... ORPHA:2750
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Malabsorption... ORPHA:912
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentratio... OMIM:620306
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Rib fusion, Cleft palate, Abnormal ... ORPHA:261197
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... OMIM:306955
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe OMIM:229230
Pgm3-Cdg
Hemolytic anemia, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4... ORPHA:443811
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Carious teeth, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased... OMIM:127550
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Distal Deletion 12Q
Micrognathia, High, narrow palate, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of t... ORPHA:96149
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... ORPHA:512
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, N... OMIM:617713
Fanconi Anemia, Complementation Group D2
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxial hand polydactyly... OMIM:227646
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... OMIM:258850
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Pyloric stenosis, High palate ORPHA:314575
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... ORPHA:363705
Marden-Walker Syndrome
Hypospadias, Arachnodactyly, Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis,... OMIM:248700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel... ORPHA:169160
Reni Syndrome
Ataxia, Hypoglycemia, Cryptorchidism, Mental deterioration, Lymphopenia OMIM:617575
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... ORPHA:3226
Atelosteogenesis Type I
Short femur, Micrognathia, Abnormal ossification involving the femoral head and neck, Abnormal fi... ORPHA:1190
Trichothiodystrophy 3, Photosensitive
Natal tooth, Bilateral cryptorchidism, Carious teeth, Neutropenia, Eclabion, Lymphopenia OMIM:616395
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Abnormal femoral head morphology, Thrombocytopenia, Abnormal prim... ORPHA:1830
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... ORPHA:1517
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell ... ORPHA:760
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Micrognathia, Crypt... OMIM:268400
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow greater sciatic not... OMIM:617425
Muir-Torre Syndrome
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A... ORPHA:587
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o... OMIM:245600
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia ORPHA:319218
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ... OMIM:263520
Camurati-Engelmann Disease
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort... ORPHA:1328
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Cardiomegaly, High, narrow palate, Abnormal finger m... ORPHA:3472
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Hepatomegaly, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short... OMIM:620076
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Lethal Acantholytic Erosive Disorder
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyopathy, Clinoda... ORPHA:158687
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Overlapping toe, Tapered finger, Cryptorchidism, Penoscrotal transpos... OMIM:619148
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Oral ulcer, Hepato... OMIM:618935
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... OMIM:300048
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, ... ORPHA:508542
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased r... ORPHA:699
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Cryptorchid... OMIM:263750
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Ectopic kidney, High, narrow palate, Renal cyst, High palate, Gastro... OMIM:122470
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Bilateral cryptorchidism, Thrombocytopenia, Neutropenia, Abnormal T ... OMIM:242900
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Macrocytic ane... OMIM:250250
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum... OMIM:226730
Hardikar Syndrome
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Hepatomegal... OMIM:301068
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Anter... OMIM:102700
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Hi... ORPHA:79330
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pancreas, Abnormal testis morpholo... ORPHA:54251
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Flaring of rib cage, Stomatitis, Broad ribs OMIM:612852
Opitz-Kaveggia Syndrome
Syndactyly, Anal stenosis, Hypospadias, Broad hallux, Intestinal malrotation, Cryptorchidism, Pyl... OMIM:305450
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Multicystic kidney dysplasia, Supernumerary ... ORPHA:1001
Ataxia-Telangiectasia
Diabetes mellitus, Ataxia, Sinusitis, Inability to walk, Choreoathetosis, Progressive cerebellar ... OMIM:208900
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nippl... ORPHA:457279
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... ORPHA:141127
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Lymphopenia OMIM:207731
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ... ORPHA:449432
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, Oral ulcer, B lymphocytopenia, A... OMIM:602450
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Split hand... OMIM:252500
Campomelia, Cumming Type
Pancreatic cysts, Bowing of the long bones, Polycystic liver disease, Polysplenia OMIM:211890
Psoriasis 14, Pustular
Neutrophilia, Cholangitis, Leukocytosis, Furrowed tongue, Geographic tongue OMIM:614204
Icf Syndrome
Abnormality of neutrophils, Protruding tongue, Micrognathia, Macroglossia, Lymphopenia, Anemia ORPHA:2268
Macrocephaly/Autism Syndrome
Hepatomegaly, Short attention span, Splenomegaly, Hydrocele testis, High palate, Long philtrum, L... OMIM:605309
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Thrombocytopenia, Type I diabetes mellitus, Lymphopenia, Anemia OMIM:620365
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Long fibula, Cognitive impairment, Abnormal metaphysis morphology, L... ORPHA:935
Orofaciodigital Syndrome I
Lobulated tongue, Hepatic fibrosis, High palate, Microretrognathia, Syndactyly, Hamartoma of tong... OMIM:311200
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Cardiomegaly, Cryptorchidism, Macroglossia,... OMIM:618143
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Apert Syndrome
Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad distal phalanx of the thumb, ... OMIM:101200
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Cardiomegaly, Pollakisuria, Dysphagia, Right ... ORPHA:268
Campomelia, Cumming Type
Hepatomegaly, Bowing of the long bones, Pancreatic cysts, Abnormality of the pancreas, Abnormal r... ORPHA:1318
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Oral leukoplakia, Abnormally low T cell receptor excision circle level OMIM:619767
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Cardiomegaly, Progressive psychomotor deterioration, Hepatosp... OMIM:268800
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Abnormally low T cell receptor exc... ORPHA:276
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... ORPHA:308552
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastroin... OMIM:270400
Mirage Syndrome
Hypoglycemia, Rocker bottom foot, Cryptorchidism, Radial club hand, Thrombocytopenia, Leukopenia,... OMIM:617053
Spondyloepimetaphyseal Dysplasia, Krakow Type
2-3 toe syndactyly, Delayed pubic bone ossification, Irregular epiphyses, High palate, Clinodacty... OMIM:618162
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopeni... OMIM:613179
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Hepatobl... OMIM:269150
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Hepatomegaly, Neutrophilia, Overlapping toe, Ataxia, Severe periodontitis,... ORPHA:99843
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cholangitis, Micrognathia, Short metatarsal, Hepatic fibrosis, Widely spaced teeth, High palate, ... OMIM:266920
Amyloidosis, Hereditary, Transthyretin-Related
Confusion, Urinary incontinence, Cardiomegaly, Cardiomyopathy, Dementia OMIM:105210
Jacobsen Syndrome
Smooth philtrum, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Missing ribs, Cryptorch... ORPHA:2308
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Arachnodactyly, Cardiomegaly, Thin ribs, Thin metatarsal cortices, Slender long bone, High palate... ORPHA:2463
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Cryptorchidism, Eryt... OMIM:612541
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... OMIM:614921
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t... OMIM:161700
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Hepatoblast... ORPHA:798
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomegaly, Leukocytosis, Aphthous ulc... OMIM:615688
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Relapsing Fever
Neutrophilia, Thrombocytopenia, Leukocytosis, Jaundice, Leukopenia, Anemia ORPHA:91547
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Trisomy 8P
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th toe, Cr... ORPHA:264450
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Pyloric sten... ORPHA:93111
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Broad hallu... ORPHA:353281
Mucopolysaccharidosis Type 3
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Avascular necrosis of the capit... ORPHA:581
Meckel Syndrome
Accessory spleen, Bowing of the long bones, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue... ORPHA:564
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ... ORPHA:454840
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly ORPHA:99931
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Arachnodactyly, Hypospadias... ORPHA:2461
Fryns Syndrome
Microretrognathia, Ectopic pancreatic tissue, Tented upper lip vermilion, Rocker bottom foot, Pro... OMIM:229850
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Campt... ORPHA:261330
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Depression, Cardiomegaly OMIM:619259
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Abnormal external genitalia, Intestinal malrotation... ORPHA:1199
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, 11 pairs of ribs, Smooth philtrum, Severe B lymphocytopenia, Portal hypertensio... OMIM:620005
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux, Dysphagia ORPHA:779
Alveolar Echinococcosis
Liver abscess, Abnormal pelvis bone morphology, Cholangitis, Portal hypertension, Ataxia, Pancrea... ORPHA:284
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Bifid distal phalanx of the thumb, Unilateral ren... OMIM:618419
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th finger, Abnormal rep... ORPHA:1606
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Overlapping fingers, Hyperglycemia, Pancreatic hypoplasia, Anemi... OMIM:609069
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... OMIM:260370
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia ORPHA:1302
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... ORPHA:99226
Jacobsen Syndrome
U-Shaped upper lip vermilion, Missing ribs, Micrognathia, Cryptorchidism, Clinodactyly of the 5th... OMIM:147791
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Micrognathia, Cryptorchidism, Cleft lip, Furrowed tongue, Hip dysplasia, High palate,... OMIM:616975
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, Neutropenia ORPHA:293173
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Gastroesophageal reflux, Atrial septal defect, ... ORPHA:818
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Feingold Syndrome 1
Accessory spleen, Micrognathia, Asplenia, Short thumb, Short toe, 4-5 toe syndactyly, 2-3 toe syn... OMIM:164280
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Bicuspid aortic valve, Neurogenic ... OMIM:617137
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Protein-losing enteropathy, ... OMIM:619991
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Hepatosplenomegal... OMIM:608013
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Hepatomegaly, Hypoglycemia, Cryptorchidism, Splenomegaly, Abnormal pancrea... ORPHA:116
Fucosidosis
Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Glycopeptiduria, Oligosacchariduria, Macrog... OMIM:230000
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Decreased LDL cholesterol co... ORPHA:14
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Micrognathia, Dysmetria, Dysphagia, Overlapping fingers, Lymphopenia, Absent uvula OMIM:619708
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Cholelithiasis OMIM:603903
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353277
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femoral epiphys... ORPHA:3342
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... OMIM:303600
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Addictive alcohol use ORPHA:1930
Vici Syndrome
Everted upper lip vermilion, Median cleft lip, Micrognathia, Cleft upper lip, Dysphagia, Cleft pa... OMIM:242840
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Bohring-Opitz Syndrome
Micrognathia, Inability to walk, Cleft lip, Cleft palate, Metacarpophalangeal joint contracture, ... ORPHA:97297
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Bowing of the long bones, Short femur, Pyloric stenosis, Nephrolithiasis,... OMIM:613848
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Hypospadias, Anterior pituitary hypoplasia, Arachnodactyly, Ventri... ORPHA:464306
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Portal hypertension, Pancreatic cysts,... OMIM:610199
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, H... OMIM:300855
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Finger swelling, Lymphopenia, Anemia OMIM:617591
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Reticulocytosis, Autoimmune hemolytic anemia, Increased B cell count, Eosinophilia,... ORPHA:3261
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucou... OMIM:300967
Craniorachischisis
Bifid sternum, Anal atresia ORPHA:63260
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Swelling of proximal interphalangeal joints, Cholangitis, Eosinophilia, Confusion, ... ORPHA:3260
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Postaxial hand polydactyly, Hepatic fibrosis, Polysplenia OMIM:200995
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Decreased HDL cholesterol concentration, Hypoplastic scapulae, Hyper... OMIM:256040
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Neonatal insulin-dependent ... ORPHA:556955
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo... ORPHA:2136
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Chronic Granulomatous Disease
Hepatomegaly, Malabsorption, Splenomegaly, Pyloric stenosis, Tracheoesophageal fistula ORPHA:379
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... ORPHA:95430
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... ORPHA:365
Whim Syndrome
Sinusitis, Severe periodontitis, Abnormal neutrophil morphology, Limb ataxia, Neutropenia, Lympho... ORPHA:51636
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, High palate, Abnormality of the uterus, Gastroe... ORPHA:199
Cushing Disease
Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolerance, Pituitary corticotropic cell ... ORPHA:96253
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Hypoglycemia, Confusion, Anorexia, Aggressive behavior, Orchitis, J... ORPHA:99826
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Abnormality of the urethra, Congenital pylori... ORPHA:158684
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries, Renal cyst ORPHA:137675
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Biliary hyperplasia, Congenit... ORPHA:731
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... ORPHA:1359
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Postax... OMIM:267010
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Irritability, Unconjugat... OMIM:618278
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc... ORPHA:79403
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Viss Syndrome
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... OMIM:619472
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a... ORPHA:391487
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Yunis-Varon Syndrome
Congenital hip dislocation, Short metatarsal, High palate, Absent hallux, Micropenis, Patent fora... OMIM:216340
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Confusion, Anorexia, Orchitis, Sple... ORPHA:99827
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Exocrine pancreatic insufficiency, High palate, Hypoplasia of the zygomatic b... OMIM:618500
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Arachnodactyly, Overlapping toe, Biliary hyperplasia, Cryptorchidism, Contracture o... ORPHA:83617
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Aphthous ulcer OMIM:249100
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Arachnodactyly, High, narrow palate, Cardiomegaly ORPHA:91387
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Micrognathia, Asplenia, Cleft lip, Cleft palate, Posterior rib fusion, Annular pancreas, Retrogna... OMIM:265380
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Oral ulcer, Hepatosplenomegaly OMIM:260920
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Irritability, Hypertrophic cardiomyopathy, Micropenis ORPHA:51
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolerance, Pa... ORPHA:99889
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Stippled calcific... ORPHA:51608
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Polycythemia OMIM:193300
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Mitral valve calcification, Coxa valga, Cardiomegaly, Aortic... OMIM:182250
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Microphthalmia, Syndromic 1
Syndactyly, Hydroureter, Hypospadias, Down-sloping shoulders, Bicuspid aortic valve, Aganglionic ... OMIM:309800
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... 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 Fhip1b

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 Fhip1b.

No publications found that use IMPC mice or data for Fhip1b.

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MGI Allele Allele Type Produced
Fhip1bem1(IMPC)Tcp Inter-exon deletion Mice, Tissue

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