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Gene: Adnp2 MGI:2448562

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Gene Summary

Name:

ADNP homeobox 2

Synonyms:

8430420L05Rik, Zfp508

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
small adrenal glands		Adnp2^em3(IMPC)Tcp	HET		Late adult	0.00
abnormal liver morphology		Adnp2^em3(IMPC)Tcp	HET		Late adult	0.00
absent adrenal gland		Adnp2^em3(IMPC)Tcp	HET		Late adult	0.00
abnormal lung morphology		Adnp2^em3(IMPC)Tcp	HOM		Early adult	0.00
decreased body length		Adnp2^em3(IMPC)Tcp	HOM		Early adult	5.12×10^-06
small spleen		Adnp2^em3(IMPC)Tcp	HET		Late adult	0.00
decreased prepulse inhibition		Adnp2^em3(IMPC)Tcp	HOM		Early adult	1.27×10^-10
abnormal ovary morphology		Adnp2^em3(IMPC)Tcp	HET		Late adult	0.00
abnormal bone structure		Adnp2^em3(IMPC)Tcp	HOM		Early adult	7.44×10^-05
enlarged lymph nodes		Adnp2^em3(IMPC)Tcp	HET		Late adult	0.00
abnormal liver morphology		Adnp2^em3(IMPC)Tcp	HOM		Early adult	0.00
decreased circulating serum albumin level		Adnp2^em3(IMPC)Tcp	HOM		Early adult	8.08×10^-05
abnormal sternum morphology		Adnp2^em3(IMPC)Tcp	HET		Late adult	0.00
abnormal liver morphology		Adnp2^em3(IMPC)Tcp	HOM		Late adult	0.00
small kidney		Adnp2^em3(IMPC)Tcp	HET		Late adult	0.00
decreased bone mineral density		Adnp2^em3(IMPC)Tcp	HOM		Early adult	1.09×10^-05
decreased circulating total protein level		Adnp2^em3(IMPC)Tcp	HOM		Early adult	1.22×10^-05
abnormal thymus morphology		Adnp2^em3(IMPC)Tcp	HET		Late adult	0.00
preweaning lethality, incomplete penetrance		Adnp2^em3(IMPC)Tcp	HOM		Early adult	0.00
abnormal uterus morphology		Adnp2^em3(IMPC)Tcp	HOM		Early adult	0.00
increased grip strength		Adnp2^em3(IMPC)Tcp	HOM		Early adult	1.16×10^-08
short tibia		Adnp2^em3(IMPC)Tcp	HOM		Early adult	2.67×10^-11
decreased exploration in new environment		Adnp2^em3(IMPC)Tcp	HET		Late adult	9.90×10^-07
small uterus		Adnp2^em3(IMPC)Tcp	HET		Late adult	0.00
hyperactivity		Adnp2^em3(IMPC)Tcp	HOM		Early adult	4.69×10^-05
decreased bone mineral content		Adnp2^em3(IMPC)Tcp	HOM		Early adult	8.35×10^-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

30 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Histopathology

Images

33 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Gross Pathology and Tissue Collection

Images

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Histopathology

Images

7 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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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Immunophenotyping

Panel A FCS file(s)

1 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Immunophenotyping

Panel B FCS file(s)

1 Images

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Immunophenotyping

Panel B FCS file(s)

5 Images

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Immunophenotyping

Panel A FCS file(s)

5 Images

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Human diseases caused by Adnp2 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.

Human diseases associated with Adnp2 (0 diseases)
Human diseases predicted to be associated with Adnp2 (422 diseases)

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

The table below shows human diseases predicted to be associated to Adnp2 by phenotypic similarity.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Acromesomelic Dysplasia 2A		Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type		Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Cholestasis, Progressive Familial Intrahepatic, 10		Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul...	OMIM:619868
Fibular Hemimelia		Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Immunodeficiency 43		Hypoplasia of the ulna, Lung abscess, Hypoproteinemia, Decreased circulating beta-2-microglobulin...	OMIM:241600
Amed Syndrome, Digenic		Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Leukopenia, Thro...	OMIM:619151
Syndactyly Type 4		Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Citrullinemia Type Ii		Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hyperc...	ORPHA:247585
Analbuminemia		Recurrent lower respiratory tract infections, Increased LDL cholesterol concentration, Elevated c...	OMIM:616000
Lipoid Congenital Adrenal Hyperplasia		Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia	OMIM:201710
Congenital Disorder Of Glycosylation, Type Ij		Jaundice, Elevated circulating hepatic transaminase concentration, Clinodactyly of the 5th finger...	OMIM:608093
Osebold-Remondini Syndrome		Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency		Increased circulating creatine kinase MM isoform, Elevated circulating alanine aminotransferase c...	OMIM:613752
Burkitt Lymphoma		Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Acromesomelic Dysplasia 2C		Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency		Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia	OMIM:613571
Leri-Weill Dyschondrosteosis		Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Acromesomelic Dysplasia, Grebe Type		Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Refractory Celiac Disease		Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hypoproteinemia, Osteoporo...	ORPHA:398063
Léri-Weill Dyschondrosteosis		Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome		Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Hypoproteinemia, Postaxial hand p...	ORPHA:1655
Lethal Faciocardiomelic Dysplasia		Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Acrocapitofemoral Dysplasia		Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Satoyoshi Syndrome		Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas...	ORPHA:3130
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome		Craniosynostosis, Hypoalbuminemia	ORPHA:88643
Rajab Interstitial Lung Disease With Brain Calcifications 2		Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Elevated circulating hepatic tr...	OMIM:619013
46,Xy Sex Reversal 3		Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Diarrhea 13		Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration	OMIM:620357
Lymphangiectasia, Intestinal		Stillbirth, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy		Hepatomegaly, Recurrent lower respiratory tract infections, Clubbing of fingers, Clubbing, Hypopr...	OMIM:226300
Immunodeficiency 27A		Anorexia, Salmonella osteomyelitis, Hypoplasia of the femoral head, Hepatosplenomegaly, Splenomeg...	OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 1		Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Increased ...	OMIM:267700
Langer Mesomelic Dysplasia		Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Slc35A2-Cdg		Osteopenia, Hip subluxation, Abnormal long bone morphology, Elevated circulating hepatic transami...	ORPHA:356961
Eiken Syndrome		Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu...	ORPHA:79106
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia		Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome		Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)		Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Alg6-Cdg		Jaundice, Shortening of all distal phalanges of the fingers, Decreased LDL cholesterol concentrat...	ORPHA:79320
Ovarian Dysgenesis 7		Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:618117
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly		Hepatomegaly, Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Pancreatic lymphangiecta...	OMIM:235255
Immunodeficiency 115 With Autoinflammation		Elevated circulating C-reactive protein concentration, Clubbing, Elevated haptoglobin level, Sple...	OMIM:620632
Hepatic Adenomas, Familial		Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma	OMIM:142330
Enterokinase Deficiency		Hypoproteinemia	OMIM:226200
Hemophagocytic Lymphohistiocytosis, Familial, 2		Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome...	OMIM:603553
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome		Hypoproteinemia, Clinodactyly of the 5th finger	ORPHA:1116
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development		Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t...	OMIM:612447
Ovarian Dysgenesis 9		Delayed puberty, Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovar...	OMIM:619665
Mesomelic Dysplasia, Savarirayan Type		Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Ovarian Dysgenesis 6		Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Spinocerebellar Ataxia With Axonal Neuropathy Type 1		Pes cavus, Hypoalbuminemia, Distal lower limb muscle weakness, Hypercholesterolemia	ORPHA:94124
Johanson-Blizzard Syndrome		Abnormality of the female genitalia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology...	ORPHA:2315
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency		Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin...	OMIM:201910
Congenital Analbuminemia		Recurrent lower respiratory tract infections, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, I...	ORPHA:86816
Congenital Disorder Of Glycosylation, Type Ih		Decreased liver function, Hepatomegaly, Cholestasis, Camptodactyly, Neonatal death, Hypoalbuminem...	OMIM:608104
Nephrotic Syndrome, Type 1		Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome		Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Ménétrier Disease		Anorexia, Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Galloway-Mowat Syndrome 6		Hypoalbuminemia, Clinodactyly of the 5th finger, Motor stereotypy, Paroxysmal bursts of laughter	OMIM:618347
Premature Ovarian Failure 7		Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Ovarian Dysgenesis 2		Delayed puberty, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Primary Intestinal Lymphangiectasia		Peritoneal effusion, Hypocalcemia, Hypoproteinemia, Pleural effusion, Hypomagnesemia, Hypoalbumin...	ORPHA:90362
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency		Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Tibial Hemimelia		Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Orofaciodigital Syndrome Viii		Polydactyly, Short tibia, Recurrent aspiration pneumonia, Syndactyly	OMIM:300484
Nephrotic Syndrome, Type 2		Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Gonadoblastoma		Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,...	ORPHA:206484
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia		Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Very Long Chain Acyl-Coa Dehydrogenase Deficiency		Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypocalcemia, Hy...	ORPHA:26793
Bent Bone Dysplasia Syndrome 2		Osteopenia, Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetab...	OMIM:620076
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency		Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
Acth-Independent Macronodular Adrenal Hyperplasia		Decreased circulating ACTH concentration, Depression, Mental deterioration, Macronodular adrenal ...	OMIM:219080
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1		Pes cavus, Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Hepatoportal Sclerosis		Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:64743
Phoar2-Enteropathy Syndrome		Hyperostosis, Hypoalbuminemia, Clubbing, Periostosis	OMIM:614441
Ovarian Dysgenesis 5		Decreased serum estradiol, Hypoplasia of the uterus, Elevated circulating luteinizing hormone lev...	OMIM:617690
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency		Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism	OMIM:202110
Stuve-Wiedemann Syndrome 1		Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Gastritis, Familial Giant Hypertrophic		Hypoproteinemia	OMIM:137280
Nephrotic Syndrome, Type 15		Hypoalbuminemia	OMIM:617609
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy		Hypoproteinemia	OMIM:221400
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies		Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Abnormal rib morpholog...	OMIM:601076
Endove Syndrome, Limb-Only Type		Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Focal Segmental Glomerulosclerosis 1		Pleural effusion, Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Diarrhea 7, Protein-Losing Enteropathy Type		Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Acheiropody		Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Perrault Syndrome 3		Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Triokinase And Fmn Cyclase Deficiency Syndrome		Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
Coenzyme Q10 Deficiency, Primary, 3		Hypoalbuminemia	OMIM:614652
Hyperaldosteronism, Familial, Type I		Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism	OMIM:103900
Premature Ovarian Failure 18		Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu...	OMIM:619203
Aplasia Cutis Congenita With Intestinal Lymphangiectasia		Hypoproteinemia	OMIM:207731
Orofaciodigital Syndrome Type 10		Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Autoinflammation With Infantile Enterocolitis		Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Splenomegaly,...	OMIM:616050
Microcephaly-Micromelia Syndrome		Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi...	OMIM:251230
Focal Segmental Glomerulosclerosis 6		Hypoalbuminemia	OMIM:614131
Congenital Disorder Of Glycosylation, Type Ig		Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Hypocalcemia, Short ribs, Cryptorc...	OMIM:607143
Diethylstilbestrol Syndrome		Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Mayer-Rokitansky-Kuster-Hauser Syndrome		Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy...	OMIM:277000
Lymphoproliferative Syndrome, X-Linked, 1		Hepatomegaly, Recurrent pharyngitis, Elevated circulating C-reactive protein concentration, Fulmi...	OMIM:308240
Dengue Fever		Hypoproteinemia, Hepatomegaly	ORPHA:99828
Nephrotic Syndrome, Type 9		Hypoalbuminemia	OMIM:615573
Pigmented Nodular Adrenocortical Disease, Primary, 4		Emotional lability, Depression, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism,...	OMIM:615830
Acromesomelic Dysplasia 3		Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation		Genital ulcers, Hepatomegaly, B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia...	OMIM:602450
Normosmic Congenital Hypogonadotropic Hypogonadism		Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Hypoplasia of the u...	ORPHA:432
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency		Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr...	OMIM:201810
Pigmented Nodular Adrenocortical Disease, Primary, 3		Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome		Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Seckel Syndrome 7		Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge...	OMIM:614851
Immunodeficiency 32B		Hepatomegaly, Bronchiectasis, Splenomegaly, Pneumonia, Hypoalbuminemia, Recurrent respiratory inf...	OMIM:226990
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency		Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat...	ORPHA:90791
Premature Ovarian Failure 6		Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ...	OMIM:612310
Metaphyseal Dysplasia, Braun-Tinschert Type		Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Alg1-Cdg		Decreased liver function, Hypoalbuminemia, Limitation of joint mobility	ORPHA:79327
Perrault Syndrome 4		Hypoplasia of the ovary, Bicornuate uterus, Cognitive impairment, Decreased serum estradiol, Incr...	OMIM:615300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor		Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency		Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Cholestas...	OMIM:615895
Nephrotic Syndrome, Type 7		Hypoalbuminemia	OMIM:615008
Nephrotic Syndrome, Type 22		Hypoproteinemia	OMIM:619155
Hennekam Lymphangiectasia-Lymphedema Syndrome 1		Joint contracture of the hand, Hyperactivity, Hypoplastic iliac wing, Pleural lymphangiectasia, P...	OMIM:235510
Fraxe Intellectual Disability		Agitation, Clinodactyly of the 5th finger, Hyperactivity, Recurrent hand flapping, Compulsive beh...	ORPHA:100973
Premature Ovarian Failure 13		Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Leishmaniasis		Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hy...	ORPHA:507
Maternal Uniparental Disomy Of Chromosome 6		Clitoral hypertrophy, Increased serum testosterone level, Slender long bone, Hydrocele testis, Th...	ORPHA:96181
Mpi-Cdg		Decreased liver function, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis	ORPHA:79319
Neurodegeneration And Seizures Due To Copper Transport Defect		Pneumothorax, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c...	OMIM:620306
Primary Membranoproliferative Glomerulonephritis		Hypoalbuminemia	ORPHA:54370
Erythroderma, Lethal Congenital		Hypoalbuminemia	OMIM:227090
Testicular Agenesis		Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s...	ORPHA:325124
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency		Rocker bottom foot, Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovar...	ORPHA:95699
Liver Failure, Infantile, Transient		Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Perrault Syndrome 6		Streak ovary, Hypoplasia of the uterus	OMIM:617565
Fibronectin Glomerulopathy		Hypoalbuminemia, Pedal edema	ORPHA:84090
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome		Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Omenn Syndrome		Pneumonia, Hypoproteinemia, Splenomegaly, Hepatomegaly	OMIM:603554
46,Xx Testicular Difference Of Sex Development		Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Ovarian Fibroma		Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Peritonitis, Gonadal calcification	ORPHA:314473
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency		Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Macrophage Activation Syndrome		Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Elevated circulating C-reactive pro...	ORPHA:158061
Short-Rib Thoracic Dysplasia 20 With Polydactyly		Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
46,Xy Sex Reversal 11		Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of...	OMIM:273250
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)		Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Acrofacial Dysostosis Syndrome Of Rodriguez		Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin...	OMIM:201170
Galloway-Mowat Syndrome 8		Hypoalbuminemia	OMIM:618349
Aicardi-Goutieres Syndrome 9		Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Osteop...	OMIM:619487
Primary Sclerosing Cholangitis		Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple...	ORPHA:171
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease		Decreased circulating ACTH concentration, Memory impairment, Depression, Emotional lability, Macr...	ORPHA:189427
S-Adenosylhomocysteine Hydrolase Deficiency		Elevated circulating hepatic transaminase concentration, Abnormal circulating homocysteine concen...	ORPHA:88618
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy		Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alanine aminot...	OMIM:617093
Alg12-Cdg		Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal placement of thumb, Sandal g...	ORPHA:79324
Autoimmune Polyendocrinopathy Type 1		Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Smith-Lemli-Opitz Syndrome		Cholestatic liver disease, Proximal placement of thumb, Hyperactivity, Bifid scrotum, Splenomegal...	OMIM:270400
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia		Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive		Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con...	OMIM:242150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly		Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, U...	OMIM:616300
Wolcott-Rallison Syndrome		Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperbilirubinem...	ORPHA:1667
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency		Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Estrogen Resistance Syndrome		Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati...	ORPHA:785
Mucopolysaccharidosis-Plus Syndrome		Hepatomegaly, Macrovesicular hepatic steatosis, Clubbing, Flared iliac wing, Recurrent bronchopul...	OMIM:617303
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency		Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Müllerian Aplasia And Hyperandrogenism		Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Brachyd...	ORPHA:247768
Mirage Syndrome		Rocker bottom foot, Radial club hand, Hypospadias, Anemia, Adrenal hypoplasia, Microphallus, Decr...	OMIM:617053
Liver Disease, Severe Congenital		Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy...	OMIM:619991
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly		Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Acth-Independent Macronodular Adrenal Hyperplasia 2		Decreased circulating ACTH concentration, Depression, Macronodular adrenal hyperplasia, Increased...	OMIM:615954
Primary Biliary Cholangitis		Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carci...	ORPHA:186
Congenital Disorder Of Glycosylation, Type Il		Hepatomegaly, Splenomegaly, Hypoalbuminemia, Hypocholesterolemia, Hip dislocation	OMIM:608776
Tetragametic Chimerism		Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Avian Influenza		Pneumothorax, Elevated circulating hepatic transaminase concentration, Elevated circulating C-rea...	ORPHA:454836
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia		Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia		Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Estrogen Resistance		Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre...	OMIM:615363
Familial Hyperaldosteronism Type I		Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster...	ORPHA:403
Chylomicron Retention Disease		Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia	OMIM:246700
Pancreatic insufficiency, combined exocrine		Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Familial Hyperaldosteronism Type Ii		Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Rajab Interstitial Lung Disease With Brain Calcifications 1		Rickets, Osteopenia, Abnormal pulmonary interstitial morphology, Reduced bone mineral density, Em...	OMIM:613658
46,Xy Sex Reversal 7		Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Rudiger Syndrome		Bicornuate uterus, Ovarian cyst, Short digit, Ureterovesical stenosis, Micropenis	OMIM:268650
Congenital Lethal Erythroderma		Hypoalbuminemia	ORPHA:1954
Microphthalmia With Limb Anomalies		Sandal gap, Short long bone, Tibial bowing, Broad thumb, Joint hypermobility, Hip dislocation, Fi...	ORPHA:1106
Congenital Disorder Of Glycosylation, Type Ib		Cirrhosis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hepatic failure	OMIM:602579
Satoyoshi Syndrome		Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,...	OMIM:600705
Nephrotic Syndrome, Type 11		Arachnodactyly, Partial duplication of thumb phalanx, Micrognathia, Hypoalbuminemia, Hypercholest...	OMIM:616730
Renal Cysts And Diabetes Syndrome		Elevated circulating hepatic transaminase concentration, Biliary tract abnormality, Atretic vas d...	OMIM:137920
Ovarian Fibrothecoma		Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ...	ORPHA:314478
Gracile Bone Dysplasia		Slender long bone, Flared metaphysis, Thin ribs, Asplenia, Hypoplastic spleen, Brachydactyly, Mic...	OMIM:602361
Idiopathic Steroid-Resistant Nephrotic Syndrome		Hypertriglyceridemia, Abnormal circulating lipid concentration, Respiratory tract infection, Peri...	ORPHA:567548
Chédiak-Higashi Syndrome		Hypertriglyceridemia, Decreased liver function, Jaundice, Elevated circulating hepatic transamina...	ORPHA:167
Wilson Disease		Portal fibrosis, Acute hepatic failure, Dysphagia, Splenomegaly, High nonceruloplasmin-bound seru...	OMIM:277900
Familial Papillary Or Follicular Thyroid Carcinoma		Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath...	ORPHA:319487
Premature Ovarian Failure 3		Hypoplasia of the uterus	OMIM:608996
Congenital Enterocyte Heparan Sulfate Deficiency		Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ...	ORPHA:103910
Hydatidiform Mole		Anemia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Weismann-Netter Syndrome		Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Orofaciodigital Syndrome Ix		Camptodactyly, Hand polydactyly, Recurrent aspiration pneumonia, Toe syndactyly, Short tibia	OMIM:258865
Chromosome 17P13.3, Telomeric, Duplication Syndrome		Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Tibial Aplasia-Ectrodactyly Syndrome		Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Genetic Steroid-Resistant Nephrotic Syndrome		Hypoalbuminemia, Respiratory tract infection, Peritonitis	ORPHA:656
Multiple Epiphyseal Dysplasia, Lowry Type		Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy...	ORPHA:166016
46,Xx Sex Reversal 2		Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, Decreased serum testosterone con...	OMIM:278850
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency		Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Congenital Disorder Of Glycosylation, Type Ia		Osteopenia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic fibros...	OMIM:212065
Microcephaly 20, Primary, Autosomal Recessive		Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Attention deficit hyperactivity disorder, H...	OMIM:617914
Familial Hemophagocytic Lymphohistiocytosis		Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Elevated cir...	ORPHA:540
Abetalipoproteinemia		Osteopenia, Pes cavus, Decreased HDL cholesterol concentration, Distal lower limb muscle weakness...	ORPHA:14
Leydig Cell Hypoplasia		Absence of secondary sex characteristics, Testicular gonadoblastoma, Increased circulating gonado...	ORPHA:755
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia		Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath...	ORPHA:97290
Orofaciodigital Syndrome Iv		Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Gollop-Wolfgang Complex		Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Hyperaldosteronism, Familial, Type Iii		Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism	OMIM:613677
Pigmented Nodular Adrenocortical Disease, Primary, 2		Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis...	OMIM:610475
Microphthalmia, Syndromic 9		Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hypoplastic spleen, Hy...	OMIM:601186
Congenital Enterovirus Infection		Pleural effusion, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatitis, Hepatic failure	ORPHA:292
Reni Syndrome		Hypertriglyceridemia, Hypogonadism, Hypoalbuminemia, Cryptorchidism, Micropenis	OMIM:617575
Bacterial Toxic-Shock Syndrome		Hypocalcemia, Arthritis, Abnormality of the lower limb, Elevated circulating creatine kinase conc...	ORPHA:36234
Myoectodermal Gonadal Dysgenesis Syndrome		Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Bifid distal phalanx of toe, Cli...	OMIM:618419
Nephrotic Syndrome, Type 6		Hypoalbuminemia	OMIM:614196
Hypophosphatemic Rickets, X-Linked Dominant		Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ...	OMIM:307800
Meckel Syndrome 12		Rocker bottom foot, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Laurin-Sandrow Syndrome		Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Nephrotic Syndrome, Type 3		Hypoalbuminemia	OMIM:610725
Thrombocytopenia-Absent Radius Syndrome		Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ...	ORPHA:3320
Al Amyloidosis		Abnormal pulmonary interstitial morphology, Hepatomegaly, Increased circulating NT-proBNP concent...	ORPHA:85443
Spinocerebellar Ataxia With Axonal Neuropathy Type 2		Elevated circulating creatine kinase concentration, Dysphagia, Elevated circulating alpha-fetopro...	ORPHA:64753
Familial Hyperaldosteronism Type Iii		Hypercalciuria, Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive prima...	ORPHA:251274
Omodysplasia 1		Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ...	OMIM:258315
Multiple Myeloma		Osteopenia, Pleural effusion, Hypercalcemia, Splenomegaly, Hyperproteinemia, Pathologic fracture,...	ORPHA:29073
Trichohepatoenteric Syndrome 1		Cirrhosis, Abnormality of iron homeostasis, Jaundice, Abnormality of the pancreas, Hepatomegaly, ...	OMIM:222470
Amoebiasis Due To Entamoeba Histolytica		Lung abscess, Liver abscess, Elevated circulating hepatic transaminase concentration, Pleural emp...	ORPHA:67
Eosinophilic Gastroenteritis		Hypoalbuminemia, Dysphagia, Elevated circulating C-reactive protein concentration	ORPHA:2070
Vitamin D Hydroxylation-Deficient Rickets, Type 1B		Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlargement of the ankles...	OMIM:600081
46,Xy Sex Reversal 4		Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Hydronephrosis, Ure...	OMIM:154230
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14		Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri...	ORPHA:96334
Laurin-Sandrow Syndrome		Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy		Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Robin Sequence With Cleft Mandible And Limb Anomalies		Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Tetraamelia Syndrome 1		Hypoplasia of the fallopian tube, Hypoplastic pelvis, Asplenia, Vaginal atresia, Urethral atresia...	OMIM:273395
Generalized Pustular Psoriasis		Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:247353
Corticosteroid-Sensitive Aseptic Abscess Syndrome		Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circulating hepatic transaminase ...	ORPHA:54251
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly		Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)		Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, H...	OMIM:617156
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly		Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor...	OMIM:263520
Femoral-Facial Syndrome		Abnormal fibula morphology, Long penis, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasi...	ORPHA:1988
46,Xx Ovotesticular Difference Of Sex Development		Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Diarrhea 10, Protein-Losing Enteropathy Type		Hypertriglyceridemia, Hypocalcemia, Pleural effusion, Hyponatremia, Micrognathia, Hypomagnesemia,...	OMIM:618183
Hydrops, Lactic Acidosis, And Sideroblastic Anemia		Decreased liver function, Hypoalbuminemia	OMIM:617021
Atelosteogenesis Type Iii		Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra...	ORPHA:56305
Occipital Horn Syndrome		Large iliac wing, Cholestasis, Absent tibia, Dysphagia, Aplasia/hypoplasia of the humerus, Joint ...	ORPHA:198
Fowler Urethral Sphincter Dysfunction Syndrome		Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Generalized Glucocorticoid Resistance Syndrome		Abnormal circulating testosterone concentration, Increased urinary cortisol level, Oligozoospermi...	ORPHA:786
Popliteal Pterygium Syndrome		Bifid scrotum, Cutaneous finger syndactyly, Hypoplasia of the vagina, Dementia, Small scrotum, Cr...	OMIM:119500
Ataxia-Oculomotor Apraxia 4		Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Complete Androgen Insensitivity Syndrome		Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno...	ORPHA:99429
Hydrolethalus Syndrome 1		Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Upper limb undergrowth, Access...	OMIM:236680
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome		Pneumonia, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Decreased circu...	ORPHA:37042
Woodhouse-Sakati Syndrome		Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,...	ORPHA:3464
Insulin-Resistance Syndrome Type B		Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Enlarged polycy...	ORPHA:2298
Combined Oxidative Phosphorylation Deficiency 37		Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular...	OMIM:618329
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome		Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism	ORPHA:369929
Hypophosphatemic Rickets, X-Linked Recessive		Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Primary Unilateral Adrenal Hyperplasia		Adrenal hyperplasia, Decreased circulating renin level, Increased urinary potassium, Glucocortoco...	ORPHA:231580
Lissencephaly Syndrome, Norman-Roberts Type		Rocker bottom foot, Adducted thumb, Hypoplastic spleen	ORPHA:89844
Partial Androgen Insensitivity Syndrome		Blind vagina, Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Hy...	ORPHA:90797
Osteosclerosis With Ichthyosis And Fractures		Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance		Pleural effusion, Hyperlipidemia, Respiratory tract infection, Hypoalbuminemia, Pedal edema, Hydr...	ORPHA:567546
Cystic Echinococcosis		Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly		Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho...	OMIM:613091
Nephrotic Syndrome, Type 8		Hypoalbuminemia	OMIM:615244
Chronic Bilirubin Encephalopathy		Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529808
Acute Bilirubin Encephalopathy		Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529799
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form		Mitten deformity, Decreased circulating carnitine concentration, Decreased circulating iron conce...	ORPHA:89842
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly		Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast...	OMIM:208500
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs		Adrenal gland agenesis, Ovotestis, Hypospadias, Sex reversal	OMIM:611812
Immunodeficiency 82 With Systemic Inflammation		Anorexia, Pneumonia, Anoperineal fistula, Elevated circulating C-reactive protein concentration, ...	OMIM:619381
Acrodysostosis 2 With Or Without Hormone Resistance		Short metatarsal, Hypospadias, Hyperactivity, Short metacarpal, Short phalanx of finger, Brachyda...	OMIM:614613
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism		Delayed puberty, Decreased response to growth hormone stimulation test, Short distal phalanx of f...	OMIM:615866
Caffey Disease		Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio...	OMIM:114000
Brachydactyly, Type A1, C		Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Meckel Syndrome 14		Pneumothorax, Talipes, Aplasia of the uterus, Postaxial hand polydactyly, Bowing of the long bone...	OMIM:619879
Omodysplasia 2		Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Hypospadias,...	OMIM:164745
Renal And Mullerian Duct Hypoplasia		Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Biliary, Renal, Neurologic, And Skeletal Syndrome		Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Broad thumb, Prolonged neonata...	OMIM:619534
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome		Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Split-Hand/Foot Malformation With Long Bone Deficiency 1		Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia		Delayed puberty, Azoospermia, Testicular microlithiasis, Decreased circulating luteinizing hormon...	OMIM:228300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency		Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
46,Xy Complete Gonadal Dysgenesis		Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency		Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:289548
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome		Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Bardet-Biedl Syndrome 1		Radial deviation of finger, Postaxial hand polydactyly, Abnormality of the ovary, Nephrogenic dia...	OMIM:209900
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis		Rocker bottom foot, Decreased circulating androstenedione concentration, Clitoral hypertrophy, De...	OMIM:201750
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige		Palmoplantar keratoderma, Hypernatremia, Recurrent respiratory infections, Hypoalbuminemia	OMIM:615508
Acromesomelic Dysplasia 2B		Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Orofaciodigital Syndrome Type 2		Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Hypop...	ORPHA:2751
Galloway-Mowat Syndrome 3		Camptodactyly, Arachnodactyly, Micrognathia, Hypoalbuminemia, Hip dislocation	OMIM:617729
Acro-Renal-Mandibular Syndrome		Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal lung lobation, Finger syndactyly, Spli...	ORPHA:958
Hyperparathyroidism, Transient Neonatal		Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Thin ribs, Femoral bowing, Short long b...	OMIM:618188
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency		Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:168558
Galloway-Mowat Syndrome 1		Pes cavus, Camptodactyly, Slender finger, Hand clenching, Micrognathia, Hypoalbuminemia, Talipes ...	OMIM:251300
Mccune-Albright Syndrome		Hepatocellular adenoma, Abnormal femur morphology, Cholestasis, Bone marrow hypocellularity, Ovar...	ORPHA:562
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome		Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Faciocardiomelic Dysplasia, Lethal		Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly		Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot p...	OMIM:119800
Juvenile Polyposis Syndrome		Neoplasm of the pancreas, Hepatic arteriovenous malformation, Clubbing of fingers, Hypoproteinemi...	ORPHA:2929
Mitochondrial Complex Iv Deficiency, Nuclear Type 12		Hypoalbuminemia, Neonatal death, Elevated circulating creatine kinase concentration	OMIM:619055
Pearson Syndrome		Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Thrombocytopenia-Absent Radius Syndrome		Femoral bowing, Aplasia of the uterus, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas...	OMIM:274000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure		Hypoalbuminemia, Pleural effusion, Dysphagia	OMIM:254900
Xfe Progeroid Syndrome		Pes cavus, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration	OMIM:610965
Ulna And Fibula, Absence Of, With Severe Limb Deficiency		Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Secondary Intestinal Lymphangiectasia		Cirrhosis, Decreased circulating prealbumin concentration, Pleural effusion, Reduced circulating ...	ORPHA:90363
Dent Disease 1		Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi...	OMIM:300009
Dyggve-Melchior-Clausen Disease		Abnormal hip bone morphology, Hyperactivity, Abnormal femoral head morphology, Short long bone, L...	ORPHA:239
Cushing Syndrome Due To Ectopic Acth Secretion		Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medullary thyroid ...	ORPHA:99889
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders		Joint stiffness, Hepatosplenomegaly, Flexion contracture, Hypoalbuminemia, Recurrent respiratory ...	ORPHA:505248
Hemophagocytic Syndrome Associated With An Infection		Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	ORPHA:158048
Mullerian Aplasia And Hyperandrogenism		Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va...	OMIM:158330
Mucopolysaccharidosis, Type Iiib		Hepatomegaly, Dense calvaria, Hyperactivity, Joint stiffness, Splenomegaly, Recurrent upper respi...	OMIM:252920
Phocomelia, Schinzel Type		Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Refractory Anemia With Excess Blasts		Abnormal circulating albumin concentration, Pedal edema, Abnormal circulating protein concentration	ORPHA:86839
Gaisböck Syndrome		Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch...	ORPHA:90041
Stormorken Syndrome		Hematuria, Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Microphthalmia With Limb Anomalies		Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ...	OMIM:206920
Fraser-Like Syndrome		Overlapping toe, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger	OMIM:229230
Woodhouse-Sakati Syndrome		Elevated circulating thyroid-stimulating hormone concentration, Hypoplasia of the fallopian tube,...	OMIM:241080
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome		Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Ne...	OMIM:146255
Purine Nucleoside Phosphorylase Deficiency		Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Mesomelic Dysplasia, Savarirayan Type		Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Kawasaki Disease		Abnormal pulmonary interstitial morphology, Jaundice, Recurrent pharyngitis, Elevated circulating...	ORPHA:2331
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly		Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Juvenile Polyposis Of Infancy		Midclavicular hypoplasia, Clubbing of fingers, Broad phalanx of the toes, Freckled genitalia, Bro...	ORPHA:79076
Atelosteogenesis, Type I		Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Functioning Gonadotropic Adenoma		Delayed puberty, Central diabetes insipidus, Isosexual precocious puberty, Decreased response to ...	ORPHA:91348
Eiken Syndrome		Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Marburg Hemorrhagic Fever		Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypoka...	ORPHA:99826
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type		Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Seckel Syndrome 1		Clitoral hypertrophy, Talipes, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalang...	OMIM:210600
Acrorenal-Mandibular Syndrome		Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment...	OMIM:200980
Cushing Disease		Dementia, Decreased eosinophil count, Memory impairment, Depression, Emotional lability, Lymphope...	ORPHA:96253
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form		Palmoplantar keratoderma, Craniosynostosis, Hypoalbuminemia	ORPHA:79396
Campomelic Dysplasia		Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Tracheo...	ORPHA:140
Acrofacial Dysostosis, Rodríguez Type		Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Pierson Syndrome		Hypoproteinemia	OMIM:609049
Craniosynostosis With Fibular Aplasia		Craniosynostosis, Fibular aplasia, Cryptorchidism	OMIM:218550
Mayer-Rokitansky-Küster-Hauser Syndrome		Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, H...	ORPHA:3109
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome		Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus...	ORPHA:2237
Juvenile Polyposis Syndrome		Hypoalbuminemia, Clubbing, Hypokalemia	OMIM:174900
Ophthalmomandibulomelic Dysplasia		Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Peutz-Jeghers Syndrome		Neoplasm of the pancreas, Iron deficiency anemia, Clubbing of fingers, Precocious puberty with Se...	OMIM:175200
Autosomal Recessive Hypophosphatemic Rickets		Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Leptospirosis		Anorexia, Jaundice, Hepatomegaly, Pleural effusion, Elevated serum transaminases during infection...	ORPHA:509
Acromelic Frontonasal Dysostosis		Patellar hypoplasia, Cryptorchidism, Mesomelic leg shortening, Syndactyly, Preaxial hand polydact...	OMIM:603671
Cranioectodermal Dysplasia 1		Radial deviation of finger, Short ribs, Short humerus, Short distal phalanx of finger, Joint hype...	OMIM:218330
Blepharophimosis, Ptosis, And Epicanthus Inversus		Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Agammaglobulinemia, X-Linked		Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
Schinzel-Giedion Midface Retraction Syndrome		Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Small scrotum, Increased densit...	OMIM:269150
Chromosome 17Q12 Deletion Syndrome		Stage 5 chronic kidney disease, Elevated circulating hepatic transaminase concentration, Unilater...	OMIM:614527
Fibrochondrogenesis 1		Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Joint contracture of the hand, Rhiz...	OMIM:228520
Ciliary Dyskinesia, Primary, 53		Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Campomelic Dysplasia		Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci...	OMIM:114290
Peters-Plus Syndrome		Bilobate gallbladder, Square pelvis bone, Ureteral duplication, Proximal placement of thumb, Shor...	OMIM:261540
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency		Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	ORPHA:90794
Ehlers-Danlos Syndrome, Vascular Type		Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Cervical insufficiency, ...	OMIM:130050
Osteogenesis Imperfecta, Type Viii		Osteopenia, Slender long bone, Femoral retroversion, Femoral bowing, Tibial bowing, Decreased sku...	OMIM:610915
Doors Syndrome		Aplasia/Hypoplasia of the phalanges of the 2nd toe, Clinodactyly of the 5th finger, 11 pairs of r...	ORPHA:79500
Osteofibrous Dysplasia, Susceptibility To		Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Turner Syndrome Due To Structural X Chromosome Anomalies		Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:99413
Turner Syndrome		Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:881
Mosaic Monosomy X		Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:99228
Monosomy X		Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:99226
Hypoplasminogenemia		Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology, Nephrolithiasis	ORPHA:722
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus		Lacrimal gland aplasia, Decreased circulating progesterone, Lacrimal gland hypoplasia, Hypergonad...	ORPHA:572333
Otopalatodigital Syndrome Type 2		Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Hypospa...	ORPHA:90652
Meige Disease		Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Linear Skin Defects With Multiple Congenital Anomalies 1		Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus	OMIM:309801
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies		Urethral atresia, Aplasia of the vagina, Thin ribs, Short ribs, Aplasia of the uterus, Missing ri...	OMIM:271520
Lumbar Syndrome		Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen...	ORPHA:83628
Familial Adenomatous Polyposis 4		Uterine leiomyoma, Ovarian cyst, Thyroid adenoma, Renal cyst	OMIM:617100
Aromatase Deficiency		Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Oeis Complex		Epispadias, Ambiguous genitalia, male, Hydroureter, 11 pairs of ribs, Rectovaginal fistula, Vesic...	OMIM:258040
Pmm2-Cdg		Osteopenia, Abnormal liver parenchyma morphology, Hyperplastic labia majora, Elevated circulating...	ORPHA:79318
Acheiropodia		Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Orofaciodigital Syndrome Type 4		Bilateral lung agenesis, Rectovaginal fistula, Finger syndactyly, Monorchism, Perineal fistula, P...	ORPHA:2753
Peters Plus Syndrome		Ureteral duplication, Clinodactyly of the 5th finger, Hypospadias, Multicystic kidney dysplasia, ...	ORPHA:709
Acromelic Frontonasal Dysplasia		Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Cryptorchidism, Preaxial foot polydactyly, ...	ORPHA:1827
Fanconi Anemia, Complementation Group L		Anemia, Unilateral renal agenesis, Aplasia of the uterus, Attention deficit hyperactivity disorde...	OMIM:614083
Argininemia		Anorexia, Hepatomegaly, Portal fibrosis, Hyperactivity, Cholestasis, Hyperargininemia, Hyperammon...	OMIM:207800
Fibular Dimelia-Diplopodia Syndrome		Absent tibia	ORPHA:1757
Schneckenbecken Dysplasia		Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular...	ORPHA:3144
Cardiac-Urogenital Syndrome		Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, 2-3 toe syndactyly, Aplasia of the ut...	OMIM:618280
Tibial Hemimelia		Absent tibia	OMIM:275220
Wolf-Hirschhorn Syndrome		Aplasia of the uterus, Biliary tract abnormality, Hip dislocation, Hypospadias, Accessory spleen,...	OMIM:194190
Otopalatodigital Syndrome, Type Ii		Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Hyp...	OMIM:304120
Pancreatoblastoma		Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia		Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome		Hypoalbuminemia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:614748
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome		Clinodactyly of the 5th finger, Aplasia of the vagina, Hyperactivity, Aplasia of the uterus, Post...	ORPHA:457284
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe		Bifid sternum	OMIM:140850
Ulbright-Hodes Syndrome		Hypoplasia of the radius, Clitoral hypertrophy, Enlarged labia minora, Fibular aplasia, Maternal ...	ORPHA:3404
Carney Complex		Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria...	ORPHA:1359
Townes-Brocks Syndrome 1		Clinodactyly of the 5th toe, Bifid scrotum, Broad thumb, Urethral valve, Aplasia/Hypoplasia of th...	OMIM:107480
Charge Syndrome		Hypoplasia of the ulna, External genital hypoplasia, Hypocalcemia, Labial hypoplasia, Hypoplastic...	OMIM:214800
Kinsship Syndrome		Osteopenia, Polydactyly, Fibular hypoplasia, Dislocated radial head, Micrognathia, Mesomelia, Mot...	OMIM:619297
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome		Aplasia/Hypoplasia involving bones of the skull, Craniosynostosis, Bifid uterus, Syndactyly, Unil...	ORPHA:1521
Neu-Laxova Syndrome 1		Rocker bottom foot, Stillbirth, Radial deviation of finger, Finger syndactyly, Calcaneovalgus def...	OMIM:256520
Limb-Mammary Syndrome		Clinodactyly of the 5th finger, Breast aplasia, Aplasia of the uterus, Oligodactyly, Hypoplastic ...	ORPHA:69085
Townes-Brocks Syndrome 2		Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Tropical Endomyocardial Fibrosis		Hypoalbuminemia, Hepatomegaly, Splenomegaly, Pedal edema	ORPHA:75565
Coffin-Siris Syndrome 1		Clitoral hypertrophy, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Dislocated radial ...	OMIM:135900
Osteopathia Striata With Cranial Sclerosis		Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ...	OMIM:300373
Exstrophy-Epispadias Complex		Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ...	ORPHA:322
Pontocerebellar Hypoplasia Type 7		Gonadal dysgenesis, Clitoral hypertrophy, Fatigable weakness of skeletal muscles, Abnormal scrota...	ORPHA:284339
Coffin-Lowry Syndrome		Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Uter...	OMIM:303600
Okamoto Syndrome		Polydactyly, Urinary incontinence, Bifid uterus, Hydronephrosis, Splenomegaly, Ureteropelvic junc...	ORPHA:2729
Craniorachischisis		Bifid sternum	ORPHA:63260
Loeys-Dietz Syndrome		Camptodactyly of finger, Micrognathia, Arachnodactyly, Joint hypermobility, Craniosynostosis, Pes...	ORPHA:60030
Pallister-Killian Syndrome		Aplasia of the uterus, Small scrotum, Edema of the dorsum of feet, Hip dislocation, Aplasia of th...	OMIM:601803
Lethal Omphalocele-Cleft Palate Syndrome		Bifid uterus	ORPHA:2736
Vascular Ehlers-Danlos Syndrome		Pneumothorax, Pulmonary artery aneurysm, Hypospadias, Hypokalemia, Uterine rupture, Congenital hi...	ORPHA:286
Norrie Disease		Cryptorchidism, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavi...	ORPHA:649

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Spleen - MPATH pathological process term hypoplasia	Adnp2^em3(IMPC)Tcp	HOM		Late adult
Bone marrow - MPATH pathological process term hypoplasia	Adnp2^em3(IMPC)Tcp	HOM		Early adult
Lymph node - MPATH pathological process term neoplasia	Adnp2^em3(IMPC)Tcp	HOM		Early adult

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 Adnp2.

No publications found that use IMPC mice or data for Adnp2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Adnp2^em3(IMPC)Tcp	Indel	Mice, Tissue
Adnp2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Adnp2^{tm445498(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Adnp2^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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