Gene Summary

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

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
increased anxiety-related response Fam160a2em1(IMPC)Tcp HOM   Early adult 1.87×10-05
abnormal pancreas morphology Fam160a2em1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Fam160a2em1(IMPC)Tcp HOM Late adult 0.00
increased neutrophil cell number Fam160a2em1(IMPC)Tcp HOM Early adult 1.31×10-07
abnormal eye morphology Fam160a2em1(IMPC)Tcp HOM Early adult 0.00
decreased lymphocyte cell number Fam160a2em1(IMPC)Tcp HOM Early adult 1.01×10-07
abnormal tooth morphology Fam160a2em1(IMPC)Tcp HOM Early adult 6.14×10-06
hypoactivity Fam160a2em1(IMPC)Tcp HOM Early adult 1.09×10-05
decreased circulating alkaline phosphatase level Fam160a2em1(IMPC)Tcp HOM Late adult 7.15×10-05
decreased fasting circulating glucose level Fam160a2em1(IMPC)Tcp HOM Early adult 1.55×10-06
abnormal sternum morphology Fam160a2em1(IMPC)Tcp HOM Early adult 0.00
abnormal ovary morphology Fam160a2em1(IMPC)Tcp HOM Late adult 0.00
abnormal seminal vesicle morphology Fam160a2em1(IMPC)Tcp HOM Late adult 0.00
decreased exploration in new environment Fam160a2em1(IMPC)Tcp HOM Middle aged adult 9.50×10-07
abnormal sternum morphology Fam160a2em1(IMPC)Tcp HOM Late adult 0.00
decreased exploration in new environment Fam160a2em1(IMPC)Tcp HOM Early adult 2.06×10-06
enlarged heart Fam160a2em1(IMPC)Tcp HOM Late adult 0.00
abnormal stomach morphology Fam160a2em1(IMPC)Tcp HOM Late adult 0.00
decreased exploration in new environment Fam160a2em1(IMPC)Tcp HOM Late adult 9.99×10-06

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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.

Eye Morphology

Images Ophthalmoscopy

96 Images

Eye Morphology

Images Ophthalmoscopy

149 Images

Eye Morphology

Images Slit Lamp

36 Images

Eye Morphology

Images Slit Lamp

86 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

11 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

5 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

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
Schizophrenia 19
Cognitive impairment OMIM:617629
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Ethanolaminosis
Cardiomegaly OMIM:227150
Tetrasomy X
Cognitive impairment, Hip dysplasia, Premature ovarian insufficiency, Clinodactyly of the 5th fin... ORPHA:9
Neutropenia, Chronic Familial
Premature loss of teeth, Neutropenia, Clubbing, Periodontitis, Gingivitis, Clubbing of fingers OMIM:162700
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 40
Lymphopenia OMIM:616433
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuf... ORPHA:412066
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Short lower limbs, Gait disturbance, Genu varum, Metaphyseal dysplasia, Abnormalit... ORPHA:2501
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... ORPHA:157798
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly, Hypoalbuminemia ORPHA:88643
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Perlman Syndrome
Hepatomegaly, Micrognathia, Smooth philtrum, High, narrow palate, Abnormality of upper lip, Open ... ORPHA:2849
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia, Abnormality of the mouth OMIM:162800
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Immunodeficiency 19
Lymphopenia OMIM:615617
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Rubinstein-Taybi Syndrome 2
Carious teeth, Micrognathia, High palate, Narrow palate, Increased overbite, Syndactyly, Hyperact... OMIM:613684
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Aceruloplasminemia
Dystonia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Torticollis, Refrac... ORPHA:48818
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Abnormal heart morphology, Cryptorchidism OMIM:184800
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Abnormal stomach morphology, Hypogonadism, Unilateral renal agenesis, Crypto... ORPHA:281090
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Malabsorption, Splenomegaly, Premature ovarian ... ORPHA:100025
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Pycnodysostosis
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Abnormality of pelv... OMIM:265800
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Reduction of neutrophil motility, Neutrophilia, Short foot, Anxiety, Brachydactyly OMIM:266265
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Aggressive behavior, Thin vermilion border, Hyperactivity, Irritability, Lymp... ORPHA:391307
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
48,Xxyy Syndrome
Carious teeth, Thick lower lip vermilion, Cleft palate, Type II diabetes mellitus, Open bite, Abn... ORPHA:10
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Folate Malabsorption, Hereditary
Athetosis, Neutropenia, Leukopenia, Ataxia, Irritability, Oral ulcer, Thrombocytopenia, Folate-re... OMIM:229050
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Nephrotic syndrome, Elevated circulating creatine kinase concentration, Cardiomegal... OMIM:617713
Satoyoshi Syndrome
Abnormality of the ovary, Genu varum, Abnormality of femur morphology, Tapered finger, Abnormalit... ORPHA:3130
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Smooth philtrum, Midline notch of upper alveolar ridge, Malar flatte... OMIM:129540
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Increased serum iron, Hepatocellular carcinoma, Azoospermia, Hy... OMIM:235200
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Microgastria, Horseshoe kidney, Aganglionic megacolon, Hand oligodactyly,... OMIM:156810
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune h... ORPHA:444463
Burkitt Lymphoma
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the ovary, Hyperuricemia ORPHA:543
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Aggressive behavior, Cardiomegaly, Progressive neurologic deteriora... OMIM:252920
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Camptodacty... OMIM:614262
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Truncus arteriosus, Phocomelia, Aplastic clavicle, Abnormality of the radius, Abnor... ORPHA:2538
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Nephrotic syndrome, Metaphyseal irregularity, Cardiomegaly, Splenomega... OMIM:269920
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Furrowed tongue, Premature ovarian insufficiency, Camptodactyly of fin... ORPHA:2928
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Scleroderma
Myocarditis, Abnormal large intestine morphology, Abnormality of the small intestine, Pericarditi... ORPHA:801
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Hyperammonemia, Splenomegaly ORPHA:664
Ménétrier Disease
Hypoproteinemia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morpholog... ORPHA:2494
Ataxia-Telangiectasia
Gait disturbance, Type II diabetes mellitus, Cognitive impairment, Polycystic ovaries, Abnormal t... ORPHA:100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cleft palate, Ventricular septal defect... OMIM:616897
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Syndactyly, Tetralogy of Fallot, Hypocalcemia, Cutaneous... OMIM:601005
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... ORPHA:465508
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splenomegaly, Auto... OMIM:617514
Cyclic Neutropenia
Sinusitis, Premature loss of permanent teeth, Peritonitis, Decreased eosinophil count, Periodonti... ORPHA:2686
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly OMIM:613576
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Cardiomegaly OMIM:618654
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Amelocerebrohypohidrotic Syndrome
Dementia, Abnormal dental enamel morphology, Amelogenesis imperfecta, Mental deterioration, Abnor... ORPHA:1946
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Cardiom... OMIM:255120
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Ulnar-Mammary Syndrome
Pyloric stenosis, Renal hypoplasia, Ventricular septal defect, Hypoplastic nipples, Ectopic anus,... ORPHA:3138
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonem... OMIM:619051
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Juvenile gastrointestinal polyposis, Neoplasm of the rectum, Stomach cancer... ORPHA:480536
Systemic Sclerosis
Myocarditis, Abnormal phalangeal joint morphology of the hand, Abnormal stomach morphology, Intes... ORPHA:90291
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Neutropenia, Anemia, Short middle phalanx of the 4th finger, Overlapping fingers, C... OMIM:616738
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Tapered finger, Nephrolithiasis, Hip dysplasia, Vesicoureteral reflux, Clinodac... OMIM:617219
Feingold Syndrome
Abnormality of the spleen, Micrognathia, Hallux valgus, Toe syndactyly, Annular pancreas, Deviati... ORPHA:1305
Galactosemia I
Hepatomegaly, Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased... OMIM:230400
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Broad first metatarsal, Cardio... OMIM:239850
Oslam Syndrome
Carious teeth, Increased mean corpuscular volume, Clinodactyly of the 5th finger, Abnormality of ... ORPHA:2760
Shwachman-Diamond Syndrome 2
Hepatomegaly, High palate, Neutropenia, Normocytic anemia, Thrombocytopenia, Genu varum, Metaphys... OMIM:617941
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Hypospadias, Aganglionic megacolon, High palate, External ... OMIM:601095
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Premature loss of teeth, Neutropenia, Eosinophilia, Monocytosis, Le... ORPHA:486
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Thrombocytosis, Leukocytosis, Monocytosis, Neutrophilia, Recurrent sinusitis OMIM:619281
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... ORPHA:1452
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Cognitive impairment, Hyperbilirubinemia, Gastric var... ORPHA:64743
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Congenital Toxoplasmosis
Hepatomegaly, Cognitive impairment, Cardiomegaly ORPHA:858
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Long fingers, Hyperechogenic pancreas, Dysmetri... ORPHA:456312
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... OMIM:618723
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Bowing of the legs, ... OMIM:277440
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Usher Syndrome Type 2
Carious teeth, Microdontia, Abnormal dental enamel morphology, Ataxia, Abnormality of dental colo... ORPHA:231178
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, High palate, Adducted thumb, Hypoplasia of the thymus, Cardiomegaly, N... OMIM:617022
48,Xxxy Syndrome
Carious teeth, Cleft palate, Type II diabetes mellitus, Open bite, Mandibular prognathia, Abnorma... ORPHA:96263
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioven... ORPHA:324410
Premature Ovarian Failure 5
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... OMIM:611548
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Urinary retention, Polycystic ovaries, Dysuria, Abnormality of the uret... ORPHA:2795
Aregenerative Anemia
Dementia, Neutropenia, Abnormal proportion of CD8-positive T cells, Cognitive impairment, Erythro... ORPHA:101096
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Brach... OMIM:186500
Attrv30M Amyloidosis
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy ORPHA:85447
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Abnormal mitral valve morpholo... ORPHA:1876
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hyperammonem... OMIM:212140
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morp... ORPHA:234
Intrinsic Factor Deficiency
Absence of intrinsic factor, Malabsorption OMIM:261000
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperprolinemia, Hepatomegaly, Cardiomegaly, Hyperalaninemia OMIM:619064
Bardet-Biedl Syndrome 1
High, narrow palate, Abnormality of the ovary, Aganglionic megacolon, High palate, Postaxial poly... OMIM:209900
Rubinstein-Taybi Syndrome
Carious teeth, Broad hallux phalanx, Micrognathia, High palate, Anxiety, Broad thumb, Finger synd... ORPHA:783
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, High palate, Cleft palate, Small hand, Bifid uvula, Clinodactyly, Hypercholeste... ORPHA:96184
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Horizontal ribs, Pancreatic cysts, Hepatic fibrosis, Early ossification of c... OMIM:208500
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Cardiomegaly, Short ribs, Iliac crest serration, Hypoplastic ischia, Short l... OMIM:613320
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Thrombocytopenia, Mandibular prognathia, Anemia, Diaphyseal sclerosis, Genu valgum... OMIM:259710
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Thickened cortex of long bones, Microglossia, Cardiomegal... OMIM:253250
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... ORPHA:1028
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, High palate, Hydronephrosis, Decrease... OMIM:608836
Noonan Syndrome 12
Proximal placement of thumb, 11 pairs of ribs, Lymphopenia, Thrombocytopenia, Decreased response ... OMIM:618624
Hemochromatosis, Type 3
Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular scle... OMIM:256300
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia, Recurrent aphthous stomatitis ORPHA:2688
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology, Abnormal myocardium morpho... ORPHA:2357
Craniometadiaphyseal Dysplasia
Carious teeth, High palate, Genu varum, Microdontia, Broad long bones, Mandibular prognathia, Mal... OMIM:269300
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Premature Ovarian Failure 8
Ovarian neoplasm, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615723
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Abnormality of the mouth, Ataxia, Irritability, Reticulocytopenia... OMIM:275350
Hypoplasminogenemia
Duodenal ulcer, Abnormality of the ovary, Decreased level of plasminogen, Nephrolithiasis, Abnorm... ORPHA:722
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Horseshoe kidney, Hypospadias, Ventricular septal defect, Cryptorchidism OMIM:218350
Immunodeficiency 49
Micrognathia, Eosinophilia, Short philtrum, Lymphopenia, Natal tooth OMIM:617237
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Cleft palate, Gait imbalance, 4-5 toe syndactyly, Rocker bottom foot, Annular pancreas, Tapered f... ORPHA:488642
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Hepatomegaly, Proximal femoral metaphyseal irregular... OMIM:260400
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Cardiomegaly, Urinary excretion of sialylated oligosaccharide... OMIM:256550
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the ureter, Precocious puberty with Sertoli cell tumor, Gastroint... OMIM:175200
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Premature ovarian ... OMIM:612964
Ulnar-Mammary Syndrome
Pyloric stenosis, Hypoplastic nipples, Hypoplasia of the radius, Micropenis, Anterior pituitary h... OMIM:181450
Mucopolysaccharidosis Type 4
Carious teeth, Gait disturbance, Wide mouth, Abnormality of epiphysis morphology, Cognitive impai... ORPHA:582
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Microdontia, Anemia, Elevated circulating thyroid-stimul... OMIM:242900
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Micrognathia, Broad long bones, Long philtrum... OMIM:257850
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cleft palate, High palate, Neutropenia, Leukopenia, Monocytosis, Broad thumb, Hypop... OMIM:612541
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dicarboxylic acid... ORPHA:42
Immunodeficiency 31C
Lymphopenia, Diabetes mellitus, Autoimmune hemolytic anemia OMIM:614162
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Squamous cell carcinoma of the tongue, Pe... OMIM:618849
Shwachman-Diamond Syndrome
Carious teeth, Sinusitis, Pancreatic hypoplasia, Neutropenia, Leukemia, Metaphyseal irregularity,... ORPHA:811
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Cleft palate, Brachydactyly, Hypoplasia of ... ORPHA:247768
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Nephrotic Syndrome, Type 14
Hypoglycemia, Ataxia, Lymphopenia, Mental deterioration, Cryptorchidism OMIM:617575
Refsum Disease, Classic
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Elevated levels of phytanic acid, Short ... OMIM:266500
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Multiple gastric polyps, Clubbing, Intussu... OMIM:174900
Lymphangiectasia, Intestinal
Lymphopenia, Prominent floating ribs OMIM:152800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Hepatomegaly, B lymphocytopenia, Anterior rib cupping, Reduced red cell adenosine deam... OMIM:102700
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, Bilateral cryptorchidism, High palate ORPHA:314575
Periventricular Nodular Heterotopia
Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux, Abnormal heart valve morphology ORPHA:98892
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis, Thin ribs, Mildly elevated creatine kinase, Urinary incontinence, Cryptorchidism ORPHA:169189
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314478
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, High, narrow palate, Hepatomegaly, Myoglobinuria, Tubulointerstitial neph... ORPHA:228308
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Chromosome 13Q33-Q34 Deletion Syndrome
Pyloric stenosis, Hypospadias, High palate, Bifid scrotum, Cutaneous syndactyly, Tapered finger, ... OMIM:619148
Autoinflammatory Syndrome, Familial, Behcet-Like
Oral ulcer, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Zellweger Syndrome
Pyloric stenosis, Hypospadias, Hepatomegaly, High palate, Hydronephrosis, Ventricular septal defe... ORPHA:912
Distal Monosomy 12Q
2-3 toe syndactyly, Smooth philtrum, Short middle phalanx of finger, Microglossia, Diabetes melli... ORPHA:96149
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
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, Short 5th finger, Congenital hip dislocation, Rocker bottom foot OMIM:133705
Short Stature, Microcephaly, And Endocrine Dysfunction
Gait disturbance, Insulin resistance, Dysmetria, Cognitive impairment, Tooth malposition, Anemia,... OMIM:616541
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... OMIM:615710
Beck-Fahrner Syndrome
Ventricular septal defect, High palate, Cardiomegaly, Hip dysplasia, Anxiety OMIM:618798
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Orofaciodigital Syndrome Type 1
Odontogenic neoplasm, Cleft palate, Hamartoma of tongue, Accessory oral frenulum, Abnormal dental... ORPHA:2750
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Neoplasm of the stomach, Adenomatous colonic polyposis, U... ORPHA:220460
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dyspla... OMIM:250250
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Refractory sideroblastic anemia, Diabetes mellitus, Type I diabetes mellitus OMIM:557000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Fused labia majora, Elevated circulating follicle... ORPHA:95699
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Stercoral ul... ORPHA:263665
Perrault Syndrome 4
Cleft palate, Cognitive impairment, Hypoplasia of the ovary, Increased circulating gonadotropin l... OMIM:615300
Marden-Walker Syndrome
Pyloric stenosis, High, narrow palate, Hypospadias, High palate, Cleft palate, Renal hypoplasia, ... OMIM:248700
Bohring-Opitz Syndrome
Micrognathia, Cleft palate, Tapered finger, Cleft upper lip, Hyperechogenic pancreas, Dislocated ... OMIM:605039
Hereditary Chronic Pancreatitis
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Jaundice ORPHA:676
Dysosteosclerosis
Broad femoral neck, Abnormal metaphyseal trabeculation, Micrognathia, High palate, Premature loss... OMIM:224300
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Postaxial polydactyly, Short ribs, Preaxial polydactyly, Brachydactyly, Syndactyly, Femoral bowin... OMIM:615503
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Long philtrum, Splenomegaly OMIM:605309
Letterer-Siwe Disease
Neutropenia, Stomatitis, Anemia, Hepatosplenomegaly, Irritability, Thrombocytopenia, Jaundice OMIM:246400
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Macrogl... ORPHA:363705
Greenberg Dysplasia
Abnormal intestine morphology, Epiphyseal stippling, Short ribs, 11 pairs of ribs, Hepatosplenome... OMIM:215140
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Dysphagia, Abnormal concentration of acylcarnitine in the urine, Gas... ORPHA:391428
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Mucopolysacchariduria, Hypoplastic scapulae, Flared il... OMIM:252500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Dysmetria, Proximal placement of thumb, Hepatic steatosis, Hip di... OMIM:616263
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Hypospadias, 2-3 toe syndactyly, Cleft palate, Bifid scrotum, Epiphyseal stippl... OMIM:270400
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, High palate, Arachnodactyly, Cryptorchidism, Slender toe OMIM:310400
Metachromatic Leukodystrophy
Dementia, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnormal stomach morpholo... ORPHA:512
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Metaphyseal dysplasia, Hepatic cysts, Epiphyseal dysplasia, Dislocated radial head, Brachydactyly... OMIM:617425
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Pancreatic hypoplasia, Splenomegaly, Micropenis, Hepatosplenomegaly, Camptodactyly... OMIM:602782
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Cleft palate, Congenital hip dislocation, Hypoplasia of the... OMIM:263750
Popov-Chang syndrome
Long philtrum, Self-injurious behavior, Small hand, Short foot, Lymphopenia, Thick vermilion bord... OMIM:618428
Pgm3-Cdg
Abnormal CD4:CD8 ratio, High palate, Neutropenia, Abnormal proportion of CD8-positive T cells, Le... ORPHA:443811
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... OMIM:167800
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Phocomelia, Bilateral radial aplasia, Malar flattening, Finger syndactyly, Hepatosple... OMIM:274000
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Increased circulating galectin-3 level, Abnormal B-type na... ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Broad ischia, Short phalanx of finger, Micrognathia, Long philtrum, Ap... ORPHA:508533
Orofaciodigital Syndrome Iii
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue, Short sternum, Posta... OMIM:258850
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Cornelia De Lange Syndrome 1
Pyloric stenosis, Hypospadias, 2-3 toe syndactyly, Cleft palate, Hypoplastic nipples, Phocomelia,... OMIM:122470
Fanconi Anemia, Complementation Group D2
Neutropenia, Annular pancreas, Leukemia, Anemia, Complete duplication of thumb phalanx, Absent ra... OMIM:227646
Amyloidosis, Hereditary, Transthyretin-Related
Dementia, Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Broad hallux phalanx, Hypertrophic cardiomyopathy, Cardiomegaly, Abnormality of the... ORPHA:1517
Rothmund-Thomson Syndrome, Type 2
Micrognathia, High palate, Microdontia, Annular pancreas, Mandibular prognathia, Supernumerary to... OMIM:268400
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Hypodontia, Abnormality of primary molar morphology, N... ORPHA:1830
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocyt... ORPHA:3226
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Dyskeratosis Congenita, Autosomal Dominant 1
Carious teeth, Premature loss of teeth, Anemia, Cirrhosis, Ataxia, Lymphopenia, Oral leukoplakia,... OMIM:127550
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Micrognathia, Cleft palate, Abnormality of fibula morphology... ORPHA:1190
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Hyperactivity, Autoimmu... ORPHA:760
Orofaciodigital Syndrome I
Carious teeth, Cleft palate, Syndactyly, Microretrognathia, Agenesis of permanent teeth, High pal... OMIM:311200
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Mitral atresia, Double outlet right ve... OMIM:306955
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Abnormality of the pancreas, Abnormal testis morphology, Neutrophilia, Liv... ORPHA:54251
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Premature ovarian insuffic... OMIM:612310
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Microp... OMIM:228300
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Pyloric stenosis, Bicuspid aortic valve, Ventricular septal defect, High palate, Abnormal heart m... ORPHA:457279
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Premature Ovarian Failure 18
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... OMIM:619203
Trisomy 18P
Pyloric stenosis, High, narrow palate, Bilateral cryptorchidism, Abnormality of finger ORPHA:1715
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Gingival overgrowth, Anemia, Delayed eruption of teet... ORPHA:508542
Feingold Syndrome 1
Micrognathia, High palate, 2-3 toe syndactyly, 4-5 toe syndactyly, Asplenia, Annular pancreas, Ap... OMIM:164280
Yunis-Varon Syndrome
Pyloric stenosis, Hypospadias, Short middle phalanx of finger, Short ribs, Micropenis, Syndactyly... ORPHA:3472
Kleefstra Syndrome
Pyloric stenosis, Hypospadias, Hydronephrosis, Bicuspid aortic valve, Ventricular septal defect, ... ORPHA:261494
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenome... ORPHA:331206
Fraser-Like Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe, Ovarian cyst OMIM:229230
Apert Syndrome
Pyloric stenosis, Cutaneous finger syndactyly, Hydronephrosis, Cleft palate, Broad distal hallux,... OMIM:101200
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Cleft palate, Hepatic fibrosis, Hamartoma of tongue, Polysyndactyly of hallux, M... OMIM:263520
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Ataxia-Telangiectasia
Sinusitis, Dystonia, Leukemia, Glucose intolerance, Hypoplasia of the thymus, Ataxia, Decreased p... OMIM:208900
Mogs-Cdg
Hepatomegaly, High palate, External genital hypoplasia, Cardiomegaly, Left ventricular hypertroph... ORPHA:79330
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Granuloma, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst,... OMIM:618935
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Hydronephrosis, Intestinal pseudo-obstruction, Congenital shortened small intes... OMIM:300048
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Bicuspid aortic valve, Cleft palate, Spatulate thumbs, 11 pairs of ribs, Broad dis... OMIM:245600
Lethal Acantholytic Erosive Disorder
Cleft palate, 3-4 finger syndactyly, Cardiomegaly, Cardiomyopathy, 4-5 finger syndactyly, Clinoda... ORPHA:158687
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morphology, Xerostomia, Retrop... ORPHA:449432
Psoriasis 14, Pustular
Geographic tongue, Cholangitis, Leukocytosis, Furrowed tongue, Neutrophilia OMIM:614204
3P25.3 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Ventricular septal defect, Cleft palate, Postaxial polydac... ORPHA:435638
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Congenital Tracheal Stenosis
Ventricular septal defect, Meckel diverticulum, Abnormality of the ureter, Duodenal atresia, Morp... ORPHA:141127
Jacobsen Syndrome
Abnormal palate morphology, Broad hallux phalanx, Smooth philtrum, Toe syndactyly, Long philtrum,... ORPHA:2308
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Cognitive impairment, Anemia, Abnormality of the metaphysis, Long fibula, Abnormality of the panc... ORPHA:935
Glycogen Storage Disease Ii
Hepatomegaly, Macroglossia, Elevated circulating creatine kinase concentration, Cardiomegaly, Spl... OMIM:232300
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Macroglossia, Cardiomegaly, Clinodactyly of the 5th finger, Short distal phalanx of... OMIM:618143
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Dextrocardia, Cleft palate, Abnormal aortic valve morphology, Abnormal heart mo... ORPHA:261197
Icf Syndrome
Micrognathia, Macroglossia, Anemia, Abnormality of neutrophils, Lymphopenia, Protruding tongue ORPHA:2268
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Lymphopenia OMIM:207731
Campomelia, Cumming Type
Bowing of the long bones, Polysplenia, Pancreatic cysts, Polycystic liver disease OMIM:211890
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Stomatitis, Abscess, Splenomegaly, Neutrophilia, Flaring of rib cage, Broad ribs OMIM:612852
Fg Syndrome Type 1
Pyloric stenosis, Hypospadias, High palate, Abnormal large intestine morphology, Mitral valve pro... ORPHA:93932
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Clubbing, Right atrial enlargement, Atrial septal defect, Muscular ventricular sept... ORPHA:439
Koolen-De Vries Syndrome
Pyloric stenosis, High, narrow palate, Hypospadias, Cleft palate, Ureteral duplication, Hydroneph... ORPHA:96169
Opitz-Kaveggia Syndrome
Pyloric stenosis, Hypospadias, Cleft palate, Broad thumb, Abnormal heart morphology, Intestinal m... OMIM:305450
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, C... ORPHA:98849
Orofaciodigital Syndrome Type 2
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... ORPHA:2751
Pearson Syndrome
Hepatomegaly, Hypoparathyroidism, Neutropenia, Thrombocytopenia, Macronodular cirrhosis, Median c... ORPHA:699
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Dysphagia, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration, Pol... ORPHA:268
Spondyloepimetaphyseal Dysplasia, Krakow Type
Irregular epiphyses, 2-3 toe syndactyly, High palate, Annular pancreas, Metaphyseal irregularity,... OMIM:618162
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Decreased proportion of CD3-positive T cells... ORPHA:276
Hardikar Syndrome
Esophageal varix, Splenomegaly, Hepatosplenomegaly, Irritability, Bilateral cleft lip and palate,... OMIM:301068
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Pyloric stenosis, Elevated circulating follicle stimulating hormone level, Bifid distal phalanx o... OMIM:618419
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Gonadoblastoma, Macroglossia, Nephrocalcinosis, Cardiomegaly,... OMIM:130650
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Campomelia, Cumming Type
Hepatomegaly, Cleft palate, Pancreatic cysts, Bowing of the long bones, Abnormality of the pancre... ORPHA:1318
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Neutrophilia, Diabetes mellitus, Lethargy ORPHA:36238
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Broad ribs, Cardiomegaly, Hypoplastic pelvis OMIM:114620
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinop... ORPHA:169160
Camurati-Engelmann Disease
Carious teeth, Abnormality of the ulna, Metaphyseal dysplasia, Aplasia/Hypoplasia of the radius, ... ORPHA:1328
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia, Elevated maternal serum alpha-fetoprotein OMIM:226730
Mirage Syndrome
Hypoglycemia, Radial club hand, Leukopenia, Rocker bottom foot, Anemia, Overlapping fingers, Lymp... OMIM:617053
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Cryptorchidism, Abnormal spleen morphology, Annular pancreas ORPHA:2470
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Splenomeg... OMIM:613179
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Thin ribs, Cardiomegaly, Arachnodactyly, Thin metatarsal cortices, Thin metacarpal c... ORPHA:2463
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Lymphopenia, Acute pancreatitis, Thrombocytopenia, Lethargy ORPHA:319218
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, High, narrow palate, Pineal cyst, Hallux valgus, V... OMIM:300967
Bohring-Opitz Syndrome
Micrognathia, Cleft palate, Happy demeanor, Annular pancreas, Prominent palatine ridges, Cholelit... ORPHA:97297
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Mucopolysaccharidosis Type 3
Hepatomegaly, Dysphagia, Mucopolysacchariduria, Dementia, Abnormal mitral valve morphology, Macro... ORPHA:581
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Leukocytosis, Premature loss of teeth, Long upper lip, Mandibular prognathia, Gingi... ORPHA:99843
Schinzel-Giedion Midface Retraction Syndrome
Hypoplastic labia minora, Hypospadias, Hypoplastic nipples, Hypoplasia of first ribs, Thickened c... OMIM:269150
Koolen-De Vries Syndrome
Pyloric stenosis, Bicuspid aortic valve, Hydronephrosis, High palate, Cleft palate, Ventricular s... OMIM:610443
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Elevated circulating creatine kinase con... ORPHA:308552
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Aplasia of the thymus, Hepatosplenomegaly, Lymphopenia, Metaphyseal d... OMIM:242700
2Q37 Microdeletion Syndrome
Pyloric stenosis, Toe syndactyly, Small hand, Finger syndactyly, Multicystic kidney dysplasia, Sh... ORPHA:1001
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Annular ... OMIM:601346
Sandhoff Disease
Hepatomegaly, Progressive psychomotor deterioration, Macroglossia, Cardiomegaly, Hepatosplenomega... OMIM:268800
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Midgut malrotation, Cleft palate, Hypospadias, Atrioventri... ORPHA:2409
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Metatarsal periosteal thickening, Foot acroosteolysis, Gastric hypertrophy, Clubbi... OMIM:161700
Meckel Syndrome
Micrognathia, Cleft palate, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Bowing of th... ORPHA:564
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia ORPHA:1116
Trisomy 8P
Cleft palate, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Short fifth metatarsal, Th... ORPHA:264450
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Hydronephrosis, Cleft palate, Ventricular septal defect, El... OMIM:614921
Sickle Cell Anemia
Hepatomegaly, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Renal insufficiency OMIM:603903
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Dysphagia, Cardiomegaly, Apathy, Progressive neurologic deterioration, Splenomegaly... OMIM:608013
Dyrk1A-Related Intellectual Disability Syndrome
Pyloric stenosis, Hypospadias, Hydronephrosis, Hallux valgus, Toe syndactyly, Duodenal atresia, P... ORPHA:464306
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Long philt... OMIM:610199
Reynolds Syndrome
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux ORPHA:779
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, High palate, Macroglossia, Cardiomegaly, Labial hypertro... ORPHA:96191
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia, Jaundice ORPHA:91547
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Aplasia/Hypoplasia of th... ORPHA:93111
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Alveolar Echinococcosis
Cholangitis, Eosinophilia, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, ... ORPHA:284
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short 1st metacarpal, Camptodactyly, Broad alveolar ridges, Radioulnar... ORPHA:798
Jacobsen Syndrome
Micrognathia, U-Shaped upper lip vermilion, Annular pancreas, Missing ribs, Clinodactyly of the 5... OMIM:147791
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Renal hypoplasia, High palate, Thin ribs, Phocomelia, Aplasia of the ulna, Short... OMIM:266910
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Fucosidosis
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Oligosacchariduria, Coxa valga OMIM:230000
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Turner Syndrome Due To Structural X Chromosome Anomalies
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Inflammation of the large intestine, ... ORPHA:99413
Turner Syndrome
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Inflammation of the large intestine, ... ORPHA:881
Mosaic Monosomy X
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Inflammation of the large intestine, ... ORPHA:99228
Monosomy X
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Inflammation of the large intestine, ... ORPHA:99226
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Hypospadias, 2-3 toe syndactyly, Cleft palate, Elevated 7-dehydrocholesterol, S... ORPHA:818
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Micrognathia, Smooth philtrum, High palate, Annular pancreas, Furrowed tongue, Attention deficit ... OMIM:616975
Fryns Syndrome
Ectopic pancreatic tissue, Cleft palate, Wide mouth, Rocker bottom foot, Long philtrum, Cleft upp... OMIM:229850
Esophageal Atresia
Pyloric stenosis, Dysphagia, Cleft palate, Ventricular septal defect, Duodenal atresia, Morpholog... ORPHA:1199
Igg4-Related Thyroid Disease
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... ORPHA:64744
Williams Syndrome
Hallux valgus, Bicuspid aortic valve, Rectal prolapse, Abnormal gastric mucosa morphology, Overri... ORPHA:904
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Leukocytosis, Thrombocytosis, Pancytopenia, Aphthous ulcer, Leukopenia, Anemia, Spl... OMIM:615688
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cleft palate, Hypoglycemia, Wide mouth, Macroglossia, Mandibular prognathia, Polycy... ORPHA:116
1P36 Deletion Syndrome
Pyloric stenosis, Hypospadias, Abnormal intestine morphology, Dilated cardiomyopathy, Self-injuri... ORPHA:1606
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinoma, Pancreatic adenocar... ORPHA:454840
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholesterolemia, Cardiomegaly, Abnorma... ORPHA:14
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Elevated circulating creatine kinase concentration, Glomerular sclerosis, Abnorma... ORPHA:158684
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy OMIM:261740
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Neutropenia, Short iliac bones, Metaphyseal widening, Metaphyseal irregula... OMIM:607944
Cowden Syndrome 1
Micrognathia, High palate, Goiter, Furrowed tongue, Ovarian carcinoma, Narrow mouth, Lymphopenia,... OMIM:158350
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Craniorachischisis
Bifid sternum, Anal atresia ORPHA:63260
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune hemolytic anemia OMIM:616100
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Bicuspid aortic valve, High palate, Cleft palate, Short metatarsal, Bifid uvula... OMIM:617137
Marden-Walker Syndrome
Pyloric stenosis, Hypospadias, Hydronephrosis, Cleft palate, Abnormal penis morphology, Metatarsu... ORPHA:2461
Cushing Disease
Adrenal hyperplasia, Leukocytosis, Dementia, Suicidal ideation, Impaired glucose tolerance, Emoti... ORPHA:96253
Adult-Onset Still Disease
Hepatomegaly, Leukocytosis, Hepatitis, Splenomegaly, Neutrophilia ORPHA:829
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Anemia, Splenomegaly, Lymphopenia, Finger swelling, Thrombocytopenia OMIM:617591
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Elevated circulating creatine kinase concentration, Sp... OMIM:613327
Immunodeficiency 23
High palate, Neutropenia, Abscess, Ataxia, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Hallux valgus, Decreased HDL cholesterol concentration, Flexion contracture of toe,... OMIM:256040
Osteogenesis Imperfecta, Type X
Pyloric stenosis, Thin ribs, Bowing of the long bones, Nephrolithiasis, Genu valgum, Broad ribs OMIM:613848
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hydronephrosis, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Urethral str... ORPHA:79403
Arterial Tortuosity Syndrome
Pyloric stenosis, Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Rocker bottom... ORPHA:3342
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Hypospadias, Hallux valgus, Posterior pituitary hypoplasia, Micropenis, Unilate... ORPHA:268261
Coffin-Lowry Syndrome
Widely spaced teeth, Hypodontia, High palate, Tapered finger, Mandibular prognathia, Bifid sternu... OMIM:303600
Legionnaires Disease
Hepatitis, Pancreatitis, Splenomegaly, Ataxia, Lymphopenia, Jaundice ORPHA:549
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Cognitive impairment, Lymphopenia, Oral ulcer, Thr... ORPHA:93552
Chronic Granulomatous Disease
Pyloric stenosis, Hepatomegaly, Malabsorption, Splenomegaly, Tracheoesophageal fistula ORPHA:379
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hepatic fibrosis, Postaxial hand polydactyly, Pancreatic fibrosis, Polysplenia OMIM:200995
Ulbright-Hodes Syndrome
Enlarged labia minora, Renal hypoplasia, Fibular aplasia, High palate, Abnormal penis morphology,... ORPHA:3404
Nephronophthisis 13
Hepatic cysts, Polydactyly, Pancreatic cysts OMIM:614377
Hennekam Syndrome
Short philtrum, Supernumerary tooth, Gingival overgrowth, Delayed eruption of teeth, Splenomegaly... ORPHA:2136
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Complete atrioventricular canal defect, Displacement o... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Hydronephrosis, Rectal prolapse, Sandal gap, Patent foramen ovale, Gastroesopha... OMIM:613177
Whim Syndrome
Sinusitis, Neutropenia, Parotitis, Severe periodontitis, Lymphopenia, Limb ataxia, Abnormality of... ORPHA:51636
Cornelia De Lange Syndrome
Pyloric stenosis, Hypospadias, Abnormality of the ulna, Cleft palate, Hypoplastic nipples, Volvul... ORPHA:199
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Pyelonephritis, Urethral diverticulum, Hip dislocation, Small bowel diverticula... ORPHA:90349
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Fused labia majora, Elevated urinary epinephrine, Abnormal external genita... ORPHA:90794
Distal 22Q11.2 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Toe syndactyly, Cleft palate, Truncus arteriosus, Ventricu... ORPHA:261330
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Dysphagia, Macroglossia, Elevated circulating creatine... ORPHA:365
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Leukocytosis, Thrombocytosis, Dementia, Portal fibrosis, Thrombocytopenia, Anemia, P... ORPHA:3260
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Irritability, Cardiomegaly OMIM:618278
Pancreatic Agenesis-Holoprosencephaly Syndrome
Aplasia/Hypoplasia of the phalanges of the thumb, High palate, Solitary median maxillary central ... ORPHA:556955
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Fulminant hepatitis, Lymphopenia, Mental deterioration, Thrombocytopeni... ORPHA:319213
Fusariosis
Brain abscess, Abnormality of the spleen, Sinusitis, Neutropenia, Lung abscess, Peritonitis, Abno... ORPHA:228119
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Meckel Syndrome, Type 7
Pancreatic cysts, Bile duct proliferation, Hepatosplenomegaly, Cholestasis, Postaxial foot polyda... OMIM:267010
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Esophageal ... ORPHA:95430
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cleft palate, Polycystic ovaries, Cardiomegaly, Renal cyst ORPHA:137675
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
3-Methylglutaconic aciduria, Cardiomegaly, Cardiomyopathy OMIM:619259
Primary Sjögren Syndrome
Chronic active hepatitis, Dementia, Normocytic anemia, Thrombocytopenia, Leukopenia, Anxiety, Xer... ORPHA:289390
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased proportion of CD3-positive ... ORPHA:90362
Degcags Syndrome
Pyloric stenosis, Hypospadias, Hepatosplenomegaly, Syndactyly, Chronic kidney disease, Oral-phary... OMIM:619488
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Marburg Hemorrhagic Fever
Lethargy, Hypoglycemia, Thrombocytopenia, Leukopenia, Neutrophilia in presence of infection, Aggr... ORPHA:99826
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho... OMIM:600802
Viss Syndrome
Submucous cleft soft palate, Ventricular septal defect, High palate, Celiac disease, Rocker botto... OMIM:619472
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Lymphopenia, Leukopenia OMIM:615934
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... ORPHA:35078
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Micrognathia, Cholangiocarcinoma, Hepatic... ORPHA:731
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells OMIM:617099
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Yunis-Varon Syndrome
Pyloric stenosis, Hypospadias, Hypoplastic nipples, Short metatarsal, Absent hallux, Aplastic cla... OMIM:216340
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Hepatomegaly, Hydronephrosis, Cleft palate, Pancreatic hypoplasia, Thin ribs, P... ORPHA:83617
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Leukocytosis, Dementia, Suicidal ideation, Pancreatoblastoma, Impaired gluco... ORPHA:99889
Singleton-Merten Syndrome 1
Expanded metacarpals with widened medullary cavities, Mitral valve calcification, Hypoplastic dis... OMIM:182250
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Gingival bleeding, O... OMIM:600903
Avian Influenza
Thrombocytopenia, Hepatitis, Lymphopenia, Leukopenia ORPHA:454836
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Peritonitis, Splenomegaly, Neutrophilia, Aphthous ulcer, Orchitis OMIM:249100
Wiskott-Aldrich Syndrome
Sinusitis, Neutropenia, Gingival bleeding, Acute leukemia, Hypoplasia of the thymus, Chronic leuk... ORPHA:906
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Bicuspid aortic valve, Cardiomegaly, Arachnodactyly ORPHA:91387
Microphthalmia, Syndromic 1
Pyloric stenosis, High, narrow palate, Hypospadias, High palate, Rectal prolapse, Aganglionic meg... OMIM:309800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Hepatosplenom... ORPHA:391487
Hyper-Igd Syndrome
Leukocytosis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Oral ulcer OMIM:260920
Crimean-Congo Hemorrhagic Fever
Mood swings, Hepatomegaly, Leukocytosis, Gingival bleeding, Leukopenia, Thrombocytopenia, Parotit... ORPHA:99827
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Neutrophilia, Acute myeloid le... ORPHA:3243
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis, Hepatosplenomegaly, Irritability ORPHA:51
Von Hippel-Lindau Syndrome
Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Abnormality of the liver, Pheochromocytoma OMIM:193300