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Gene: Calb1 MGI:88248

Gene Summary

Name:

calbindin 1

Synonyms:

calbindin-D (28k), CB, Calb, Brain-2, CalbindinD28K, Calb-1, calbindin

Order Alleles

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	Allele	Zyg	Life Stage	P Value
kyphosis	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.92×10^-06
abnormal heart morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal retina morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.75×10^-05
abnormal spleen morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal uterus morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spine curvature	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.45×10^-05
small spleen	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal vertebral arch morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	6.27×10^-11
abnormal testis morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart left ventricle morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.45×10^-06
hydrometra	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased cardiac muscle contractility	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.49×10^-06
enlarged heart	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal vertebrae morphology	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.01×10^-12
small testis	Calb1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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X-ray

XRay Images Hind Leg and Hip

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Human diseases caused by Calb1 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 Calb1 (0 diseases)
Human diseases predicted to be associated with Calb1 (942 diseases)

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

The table below shows human diseases predicted to be associated to Calb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Angelman syndrome (Type 1)	Truncal ataxia, EEG abnormality	DECIPHER:4
Angelman syndrome (Type 2)	Truncal ataxia, EEG abnormality	DECIPHER:54
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Spastic Paraplegia 72B, Autosomal Recessive	Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait	OMIM:620606
Posterior Column Ataxia	Impaired vibratory sensation, Impaired proprioception, Ataxia	OMIM:176250
Ataxia-Oculomotor Apraxia Type 1	Gait disturbance, Ataxia	ORPHA:1168
Episodic Ataxia Type 5	Truncal ataxia, Ataxia	ORPHA:211067
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Abasia, Ataxia	OMIM:209100
Megalencephaly With Dysmyelination	Spasticity, EEG with photoparoxysmal response, Ataxia	OMIM:249240
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Developmental Delay With Dysmorphic Facies And Dental Anomalies	Spasticity, EEG abnormality, Ataxia	OMIM:619228
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Spastic Paraplegia 72A, Autosomal Dominant	Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho...	OMIM:615625
Autosomal Recessive Spastic Paraplegia Type 27	Spastic paraplegia, Abnormality of somatosensory evoked potentials, Babinski sign, Dysdiadochokin...	ORPHA:101007
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Spinocerebellar Ataxia Type 23	Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista...	ORPHA:101108
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, EEG with polyspike wave complexes, Morning myoclonic jerks, Ataxia, Inten...	ORPHA:308
Episodic Ataxia, Type 8	Ataxia, Slurred speech, Intention tremor, Episodic ataxia	OMIM:616055
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ...	OMIM:616053
Spinocerebellar Ataxia 41	Unsteady gait, Gait ataxia, Ataxia	OMIM:616410
Spinocerebellar Ataxia, Autosomal Recessive 25	Truncal ataxia, Babinski sign, Dysmetria, Ataxia	OMIM:617584
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Spinocerebellar Ataxia 35	Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins...	OMIM:613908
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Congestive heart failure, Kyphoscoliosis	OMIM:300886
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Spinocerebellar Ataxia Type 35	Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T...	ORPHA:276193
Sandhoff Disease	Cherry red spot of the macula, Congestive heart failure, Splenomegaly, Hepatomegaly, Kyphosis	ORPHA:796
Spinocerebellar Ataxia, Autosomal Recessive 22	Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,...	OMIM:616948
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,...	ORPHA:423275
Epilepsy, Progressive Myoclonic 7	EEG with generalized epileptiform discharges, Myoclonus, Tremor, Ataxia	OMIM:616187
Spinocerebellar Ataxia 11	Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia	OMIM:604432
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Ataxia, Interictal e...	OMIM:254800
Ataxia, Sensory, 1, Autosomal Dominant	Sensory ataxia, Decreased amplitude of sensory action potentials, Positive Romberg sign, Gait ata...	OMIM:608984
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Paresthesia, Posi...	OMIM:601098
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Optic atrophy, Splenomegaly, Cone/cone-rod dystrophy, Retinal degeneration, Rod-co...	OMIM:602271
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity	ORPHA:228169
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ...	OMIM:607876
Ceroid Lipofuscinosis, Neuronal, 5	Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, ...	OMIM:256731
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hurler-Scheie Syndrome	Abnormal vertebral morphology, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abn...	ORPHA:93476
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Episodic Ataxia, Type 5	Episodic ataxia, EEG with spike-wave complexes, Myoclonus, Ataxia, Truncal ataxia, EEG with gener...	OMIM:613855
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypog...	OMIM:235200
Heart Defects-Limb Shortening Syndrome	Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal mitral valve...	ORPHA:1354
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Kyphosis	ORPHA:1875
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Cervical spinal canal stenosis, Cryptorchidism, Scheuermann-like vert...	OMIM:301900
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo...	ORPHA:40
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Cherry red spot of the macula, Splenomegaly, Hepatomegaly, Anterior beaking of lum...	OMIM:230650
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo...	OMIM:602390
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-Wh...	OMIM:618234
Hemochromatosis, Type 2B	Hepatic fibrosis, Cardiomyopathy, Congestive heart failure, Hypogonadism, Splenomegaly, Hepatomeg...	OMIM:613313
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:611225
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly, Abnormal form of the vertebral bodies	ORPHA:1802
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Secondary amenorrhea, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cry...	ORPHA:3085
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Hypospadias, Kyphosis, Abnormal testis morphology	ORPHA:1548
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential...	ORPHA:320401
Null Syndrome	Progressive spastic paraplegia, Difficulty walking, Decreased nerve conduction velocity, Inabilit...	ORPHA:280234
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice, Kyphosis, Cryptorchidism	OMIM:618512
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Optic disc pallor, Scoliosis, Kyphosis	OMIM:617087
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Spinocerebellar Ataxia 44	Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:608540
Congenital Myopathy 8	Cardiomegaly, Scoliosis, Congestive heart failure	OMIM:618654
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Cardiomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Asymmetric septal hypert...	OMIM:252920
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl...	OMIM:619313
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Endometriosis, Verteb...	ORPHA:3109
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol...	OMIM:271530
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Fetal Akinesia Deformation Sequence 4	Short neck, Kyphosis, Cryptorchidism	OMIM:618393
Congenital Toxoplasmosis	Ascites, Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytop...	ORPHA:858
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia, Kyphosis	OMIM:618453
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema...	ORPHA:755
Mirage Syndrome	Microphallus, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Leukopenia, Cryptorc...	OMIM:617053
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Sialidosis Type 2	Abnormal macular morphology, Ascites, Splenomegaly, Hepatomegaly, Kyphosis	ORPHA:87876
Cardiofacioneurodevelopmental Syndrome	Abdominal situs inversus, Atrioventricular canal defect, Cryptorchidism, Ventricular septal defec...	OMIM:619123
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Roifman Syndrome	Biconvex vertebral bodies, Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy,...	OMIM:616651
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Optic atrophy, Kyphosis	OMIM:618237
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
X-Linked Intellectual Disability, Stocco Dos Santos Type	Increased serum serotonin, Kyphosis	ORPHA:85288
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Short neck, Scoliosis, Cryptorchidism	ORPHA:178148
Genitopalatocardiac Syndrome	Hypospadias, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism, Male ...	ORPHA:2075
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Kypho...	OMIM:300280
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Decreased l...	ORPHA:465508
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Delayed puberty, Scoliosis, Kyphosis	ORPHA:2598
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Proteus Syndrome	Lymphangioma, Spinal canal stenosis, Splenomegaly, Kyphoscoliosis	OMIM:176920
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Scoliosis, Kyphosis, Retinal dystrophy	OMIM:616756
Ruvalcaba Syndrome	Cryptorchidism, Delayed puberty, Scoliosis, Kyphosis, Retinal dystrophy	OMIM:180870
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Dilated cardiomyopathy, Arrhythmia, Kyphosis, Hypergonadotropic hypogonadism, Ne...	OMIM:615084
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Autism Spectrum Disorder Due To Auts2 Deficiency	Abnormal heart morphology, Cryptorchidism, Atrial septal defect, Scoliosis, Kyphosis	ORPHA:352490
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Mucopolysaccharidosis, Type Iiic	Splenomegaly, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Rod-con...	OMIM:252930
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Congenital Arthrogryposis With Anterior Horn Cell Disease	Kyphosis, Short neck, Scoliosis, Cryptorchidism	OMIM:611890
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Hepatomegaly, Thromb...	OMIM:611490
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Lissencephaly Syndrome, Norman-Roberts Type	Abnormal retinal morphology, Hypoplastic spleen, Atrial septal defect, Patent foramen ovale	ORPHA:89844
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec...	OMIM:618652
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Vitreous floaters, Cardiomegaly, Arrhythmia, Impotence	ORPHA:85447
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Neuraminidase Deficiency	Cardiomyopathy, Cherry red spot of the macula, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly,...	OMIM:256550
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,...	OMIM:606003
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis, Abnormal retinal morphology	ORPHA:2786
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Cryptorchidism, Hepatic steatosis, Telangiectasia of the skin, Hepatomegaly, S...	OMIM:615381
Autosomal Recessive Spondylocostal Dysostosis	Scoliosis, Abnormal form of the vertebral bodies, Abnormal morphology of female internal genitali...	ORPHA:2311
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Subaortic Stenosis-Short Stature Syndrome	Type II diabetes mellitus, Biliary tract abnormality, Short neck, Arrhythmia, Subvalvular aortic ...	ORPHA:3191
Diabetic Embryopathy	Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptorchidism, Vertebral ...	ORPHA:1926
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Scoliosis, Cryptorchidism, Vertebral segmentation defect	ORPHA:2617
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Abnormal hemoglobin, S...	ORPHA:848
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:617404
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Scoliosis, Cryptorchidism, Kyphoscoliosis	OMIM:618484
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme...	OMIM:609813
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Bethlem Myopathy 2	Scoliosis, Kyphosis	OMIM:616471
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega...	ORPHA:417
Chromosome 3Q13.31 Deletion Syndrome	Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, Kyphosis	OMIM:615433
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Ventricular f...	OMIM:115197
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Dilated cardiomyopathy, Arrhythmia, Kyphosis, Hypergonadotropic hypogonadism, Ne...	ORPHA:352447
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Mogs-Cdg	Optic atrophy, External genital hypoplasia, Hepatosplenomegaly, Thoracic scoliosis, Cardiomegaly,...	ORPHA:79330
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology...	ORPHA:3092
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Winchester Syndrome	Kyphosis	OMIM:277950
Niemann-Pick Disease, Type B	Abnormal macular morphology, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia...	OMIM:607616
Gray Platelet Syndrome	Abnormality of the menstrual cycle, Epistaxis, Splenomegaly, Thrombocytopenia	ORPHA:721
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Cryptorchidism, Ventricular ...	OMIM:601186
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Abnormal form of the vertebral bodies, Pancreatic cysts, Hepatosp...	ORPHA:464329
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Asymmetric septal hypertrophy, Scoliosis	OMIM:252900
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Mcdonough Syndrome	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:2471
Myofibrillar Myopathy 10	Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval, Kyphosis	OMIM:619040
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Cantu Syndrome	Platyspondyly, Congenital hypertrophy of left ventricle, Cuboid-shaped vertebral bodies, Cardiome...	OMIM:239850
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Autosomal Dominant Spondylocostal Dysostosis	Abnormal morphology of female internal genitalia, Vertebral segmentation defect, Short neck, Hype...	ORPHA:1797
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Gm1 Gangliosidosis	Platyspondyly, Optic atrophy, Abnormal form of the vertebral bodies, Cardiomyopathy, Congestive h...	ORPHA:354
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Srd5A3-Cdg	Optic atrophy, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Micr...	ORPHA:324737
Becker Nevus Syndrome	Supernumerary nipple, Hypoplastic labia minora, Abnormal scrotum morphology, Spina bifida occulta...	ORPHA:64755
Alpha-Mannosidosis	Type II diabetes mellitus, Splenomegaly, Short neck, Hepatomegaly, Scoliosis, Kyphosis	ORPHA:61
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive...	OMIM:614096
Sialidosis Type 1	Abnormal form of the vertebral bodies, Cherry red spot of the macula, Splenomegaly, Retinopathy, ...	ORPHA:812
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Mega...	OMIM:222300
Wolman Disease	Adrenal calcification, Hepatomegaly, Splenomegaly	OMIM:620151
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Splenomegaly, Short neck, Kyphosis, Ovoid vertebral bodies	ORPHA:583
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Hypospadias, Kyphosis, Fused cervica...	ORPHA:2522
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Scoliosis, Cryptorchidism	OMIM:619797
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Sjögren-Larsson Syndrome	Macular degeneration, Abnormality of retinal pigmentation, Retinopathy, Scoliosis, Kyphosis	ORPHA:816
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
3C Syndrome	Aortic valve stenosis, Hypospadias, Hypoplastic left heart, Optic atrophy, Chorioretinal coloboma...	ORPHA:7
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Retin...	ORPHA:2969
Fucosidosis	Anterior beaking of thoracic vertebrae, Cherry red spot of the macula, Cervical platyspondyly, Lu...	OMIM:230000
19P13.12 Microdeletion Syndrome	Precocious puberty, Hypospadias, Aortic regurgitation, Cryptorchidism, Mitral regurgitation, Vent...	ORPHA:254346
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Mitral valve prolapse, Splenomegaly, Hypogonadotropic ...	ORPHA:251066
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype...	ORPHA:2414
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites...	ORPHA:2905
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr...	ORPHA:3097
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Splenomegaly, Narrow vertebral...	OMIM:602557
Trisomy 13	Optic atrophy, Abnormal morphology of female internal genitalia, Cryptorchidism, Displacement of ...	ORPHA:3378
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis	ORPHA:276630
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno...	ORPHA:79301
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Clark-Baraitser syndrome	Macroorchidism, Scoliosis, Kyphosis	OMIM:300602
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Cirrhotic Cardiomyopathy	Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re...	ORPHA:57777
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hyperlo...	ORPHA:3130
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology, Thrombocytopenia,...	ORPHA:3320
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Scoliosis, Abnormality of the cervical spine, Kyphosis	ORPHA:48431
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Cryptorchidi...	ORPHA:1655
Fucosidosis	Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Hypothyroidism, Anterior beaking of l...	ORPHA:349
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
Oculoskeletodental Syndrome	Splenomegaly, Cryptorchidism, Hepatomegaly, Hypothyroidism, Lacunar stroke, Scoliosis, Thoracic k...	OMIM:618440
Mulibrey Nanism	Pigmentary retinopathy, Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction...	OMIM:253250
Congenital Alveolar Capillary Dysplasia	Abnormal vertebral morphology, Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, T...	ORPHA:210122
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly, Sho...	OMIM:616897
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo...	OMIM:615234
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Scoliosis	ORPHA:3137
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Cardiomyopathy, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutro...	ORPHA:79312
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane...	OMIM:603552
Intellectual Developmental Disorder, Autosomal Dominant 23	Hypospadias, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple	OMIM:615761
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Alg1-Cdg	Abnormal heart morphology, Scoliosis, Kyphosis, Cardiomyopathy	ORPHA:79327
Infantile Liver Failure Syndrome 3	Platyspondyly, Hepatic bridging fibrosis, Cholestasis, Splenomegaly, Hepatic steatosis, Hypoplast...	OMIM:618641
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypogonadism, Decreased testicular size, Cryptorchidism, Delayed puberty, Micropenis, Hypospadias...	OMIM:300354
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete...	OMIM:271500
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic cardiomyopathy, Splen...	ORPHA:79083
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Abno...	OMIM:309900
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Overriding a...	OMIM:617022
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Abnormality of retinal pigmentation, Ventricular septal d...	ORPHA:290
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis	ORPHA:505652
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Mucopolysaccharidosis, Type Iva	Platyspondyly, Hypoplasia of the odontoid process, Abnormal heart valve morphology, Hepatomegaly,...	OMIM:253000
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Congenital Disorder Of Glycosylation, Type Il	Ascites, Splenomegaly, Hepatomegaly, Short neck, Atrial septal defect, Pericardial effusion, Kyph...	OMIM:608776
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Cowden Syndrome 5	Thyroid adenoma, Goiter, Angioid streaks of the fundus, Ovarian cyst, Hypothyroidism, Hyperthyroi...	OMIM:615108
Hurler Syndrome	Aortic regurgitation, Hypoplasia of the odontoid process, Cardiomyopathy, Hepatosplenomegaly, End...	OMIM:607014
Stickler Syndrome, Type I	Platyspondyly, Vitreoretinopathy, Spondylolisthesis, Mitral valve prolapse, Morbus Scheuermann, M...	OMIM:108300
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Optic atrophy, Sea-blue histiocytosis, Splenomegaly, Hypop...	OMIM:230600
15Q24 Microdeletion Syndrome	Hypospadias, Microphallus, Decreased response to growth hormone stimulation test, Abnormal heart ...	ORPHA:94065
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Thoracolumbar scoliosis, Kyphosis	OMIM:313420
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Cowden Syndrome 6	Varicocele, Thyroid adenoma, Goiter, Angioid streaks of the fundus, Ovarian cyst, Hypothyroidism,...	OMIM:615109
Intellectual Developmental Disorder, X-Linked 112	Hypospadias, Abnormal heart morphology, Cryptorchidism, Retinopathy, Kyphoscoliosis, Bicuspid aor...	OMIM:301111
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Urban-Rogers-Meyer Syndrome	Hypogonadism, Cryptorchidism, Short neck, Hypoplasia of penis, Kyphosis	ORPHA:3409
Difference Of Sex Development-Intellectual Disability Syndrome	Small scrotum, Hypogonadism, Short neck, Spina bifida occulta, Hypoplasia of penis, Kyphosis	ORPHA:2983
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Cowden Syndrome 1	Varicocele, Thyroid adenoma, Goiter, Lymphopenia, Angioid streaks of the fundus, Ovarian carcinom...	OMIM:158350
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Micro Syndrome	Optic atrophy, Retinal coloboma, Hypoplastic labia minora, Cryptorchidism, Abnormality of retinal...	ORPHA:2510
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect	OMIM:619170
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Kyphosis, Aplasia/hypoplasia of the uterus, Abs...	ORPHA:2232
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancy...	ORPHA:398124
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Scoliosis, Kyphosis	ORPHA:99014
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased carnitine level ...	OMIM:212140
Hurler-Scheie Syndrome	Aortic regurgitation, Splenomegaly, Mitral regurgitation, Pulmonary arterial hypertension, Hepato...	OMIM:607015
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Back pain	ORPHA:56425
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Cryptorchidism, Scoliosis,...	ORPHA:628
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Bradycardia, Pericardial effusion	OMIM:614702
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Aarskog-Scott Syndrome	Cervical spine hypermobility, Hypoplasia of the odontoid process, Elevated circulating luteinizin...	OMIM:305400
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Scoliosis, Kyphosis	OMIM:610743
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia, Hepatomegaly, Macrovesicular hepat...	OMIM:600649
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytop...	OMIM:619151
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Cryptorchidism, Mitral regurgitation, ...	ORPHA:261250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Dysplastic sacrum, Cardiomegaly, Short neck, Pulmonary arterial hypertension, Severe platyspondyl...	OMIM:613320
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Leukemia, Supernumerary nipple, Cryptorchidism, Micropenis, Scolio...	OMIM:619951
Pelger-Huet Anomaly	Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Neutropenia, T...	OMIM:169400
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Retinal degeneration, Cardiomegaly, Arrhythmia, Rod-con...	OMIM:266500
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Dysmenorr...	ORPHA:2348
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Myotonic Dystrophy 1	Cholelithiasis, Atrial flutter, Hypogonadism, First degree atrioventricular block, Testicular atr...	OMIM:160900
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Cerebral hemorrhage, Anem...	OMIM:618886
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Hepatomega...	ORPHA:99931
Joubert Syndrome 33	Splenomegaly, Cone/cone-rod dystrophy	OMIM:617767
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr...	OMIM:618223
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Congestive heart failure, Splenomegaly, Macrocytic anemia, Cho...	OMIM:615512
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Mucopolysaccharidosis Type 1	Optic atrophy, Abnormal form of the vertebral bodies, Spinal canal stenosis, Hypertrophic cardiom...	ORPHA:579
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Cardiomyopathy, Spondylolisthesis, Retinopathy, Retinal degeneration, Sever...	OMIM:252600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Dilated cardiomyopathy, Hyperlordosis, Vertebral fusion, Abnormal left ventricular function, Scol...	OMIM:607155
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Small scrotum, Absence of pubertal development, Type II diabetes ...	ORPHA:398069
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Increased circulating insulin-like growth factor 1 concentration, Pituit...	OMIM:300942
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ...	ORPHA:392
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormal form of the vertebral bodies, Pulmonic stenosis	ORPHA:3098
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo...	OMIM:253220
Hall-Riggs Syndrome	Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates	OMIM:234250
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Vacterl/Vater Association	Bifid scrotum, Abnormal morphology of female internal genitalia, Abnormality of the gallbladder, ...	ORPHA:887
Weismann-Netter Syndrome	Abnormal form of the vertebral bodies, Abnormality of the thyroid gland, Anemia, Scoliosis, Kyphosis	ORPHA:3344
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Hypertension, Splenomegaly	OMIM:105200
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Schaaf-Yang Syndrome	Hypogonadism, Cryptorchidism, Micropenis, Scoliosis, Kyphosis	OMIM:615547
Gracile Bone Dysplasia	Micropenis, Asplenia, Hypoplastic spleen, Ascites	OMIM:602361
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal intervertebral di...	ORPHA:2635
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Vaginal hernia, Hemivertebra...	ORPHA:2916
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Aplastic anemia, Optic disc hypoplasia, Hypogonadism, Ventricular ...	OMIM:300514
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Diabetes m...	OMIM:612526
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva...	OMIM:618117
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis	ORPHA:85317
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Isolated Anencephaly	Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Scoliosis, Kyphosis, Pulmoni...	OMIM:609008
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Adams-Oliver Syndrome 6	Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Truncus arteriosus,...	OMIM:616589
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas...	ORPHA:432
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Retinopathy, Thrombocytopenia, Hepatomegaly, Mediastinal ly...	ORPHA:158029
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,...	OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Seckel Syndrome 7	Lumbar scoliosis, Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea	OMIM:614851
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Cryptorchidism, Ventricular septal defect, Scoliosis, Kyphosis	ORPHA:404440
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic a...	OMIM:601859
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Kyphosis, Cryptorchidism, Short neck	ORPHA:3082
Hurler Syndrome	Abnormal vertebral morphology, Cardiomyopathy, Spinal canal stenosis, Abnormal heart valve morpho...	ORPHA:93473
Cockayne Syndrome Type 2	Male hypogonadism, Cryptorchidism, Hepatomegaly, Scoliosis, Kyphosis	ORPHA:90322
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Scoliosis, Kyphosis	OMIM:618124
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Cryptorchidism, Ventricular septal defect, Hemivertebrae, Hypoplas...	ORPHA:77298
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Hypopigmentation of the fundus, Abnormal optic nerve morphology, Kyphosis	ORPHA:77300
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Macular degeneration, Angioid streaks of the fundus, Mitral valve pr...	OMIM:177850
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Cryptorchidism, Delayed puberty, Scoliosis, Kyphosis	ORPHA:3121
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Aplasia of the vagina, Aplas...	OMIM:271520
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Cantú Syndrome	Platyspondyly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cuboid-shaped verteb...	ORPHA:1517
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Cryptorchidism, Ventricular septal defect, Short neck, Hyp...	ORPHA:2789
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen...	ORPHA:3226
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Hepatitis, Lumbar hyperlordosis, Increased vertebral height, Pancytopen...	OMIM:613385
Emanuel Syndrome	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Truncus arteriosus, Pulmonic st...	OMIM:609029
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly, Mitral val...	OMIM:231005
Noonan Syndrome 14	Aortic regurgitation, Hypertrophic cardiomyopathy, Lymphopenia, Cryptorchidism, Mitral valve prol...	OMIM:619745
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o...	ORPHA:90796
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c...	ORPHA:158057
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Splenomegaly, Ventricular septal defect, Th...	OMIM:235255
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv...	ORPHA:363705
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Pagod Syndrome	Hypoplastic left heart, Optic atrophy, Abnormality of the uterus, Abnormal morphology of female i...	ORPHA:991
Alstrom Syndrome	Irregular menstruation, Pigmentary retinopathy, Dilated cardiomyopathy, Insulin-resistant diabete...	OMIM:203800
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Scoliosis, Kyphosis, Retinal dystrophy	ORPHA:464282
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Mosaic Trisomy 20	Spinal canal stenosis, Cryptorchidism, Abnormal mitral valve morphology, Vertebral segmentation d...	ORPHA:1724
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy	OMIM:613987
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Congestive...	OMIM:615895
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Achalasia, Lymp...	ORPHA:3386
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis, Mitral valve prolapse	ORPHA:137834
Aredyld Syndrome	Type I diabetes mellitus, Type II diabetes mellitus, Splenomegaly, Hepatomegaly, Scoliosis	ORPHA:1133
Immunodeficiency 54	Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo...	OMIM:609981
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ...	OMIM:156530
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk...	OMIM:612840
Hydatidiform Mole	Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right...	ORPHA:3427
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, HbH hemoglobin, Cryptorchidism, Kyphoscoliosis, Ventricular septal defect, Perimembr...	OMIM:301040
Marden-Walker Syndrome	Hypospadias, Cryptorchidism, Short neck, Dextrocardia, Micropenis, Scoliosis, Kyphosis	OMIM:248700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Sandhoff Disease	Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatom...	OMIM:268800
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Reduced left ventricular ejection fraction, Cardiomegaly, Hyperlordosis, Right bund...	ORPHA:268
Cholesteryl Ester Storage Disease	Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Abnormality of the vertebral column, Bicornuate uterus	OMIM:601076
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly, Cone/cone-rod dystrophy	OMIM:614979
Flynn-Aird Syndrome	Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland, Rod-c...	ORPHA:2047
Koolen-De Vries Syndrome	Hypospadias, Cryptorchidism, Vertebral segmentation defect, Bicuspid aortic valve, Hypothyroidism...	ORPHA:96169
Kagami-Ogata Syndrome	Splenomegaly, Ventricular septal defect, Kyphoscoliosis, Pulmonary arterial hypertension, Atrial ...	OMIM:608149
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Kyphosis	ORPHA:3454
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Hepatitis, Ascites, Splenomegaly, Short neck, Anter...	ORPHA:584
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Ventricular escape rhythm, Hyperlordosi...	ORPHA:98855
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Cholestasis, Splenomegaly, Ventricular septal defect, Retinal degeneration, Hep...	OMIM:615630
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Ullrich Congenital Muscular Dystrophy	Short neck, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:75840
Fetal Cytomegalovirus Syndrome	Optic atrophy, Hepatitis, Retinal hemorrhage, Splenomegaly, Chorioretinitis, Hepatomegaly, Thromb...	ORPHA:294
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Aortic valve stenosis, Hypoplasia of the odontoid process, Mitral regurgitation, H...	OMIM:253010
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Camurati-Engelmann Disease	Optic atrophy, Abnormality of the vertebral column, Hypogonadism, Hypertrophic cardiomyopathy, Le...	ORPHA:1328
Meckel Syndrome 14	Hepatic fibrosis, Tricuspid regurgitation, Mitral regurgitation, Aplasia of the uterus, Short nec...	OMIM:619879
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Kyphosis, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Short n...	ORPHA:98863
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp...	OMIM:314050
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Hsd10 Disease, Infantile Type	Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Cardiomegaly, Rod-cone dystrophy	ORPHA:391428
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly,...	OMIM:619463
Townes-Brocks Syndrome 2	Scoliosis, Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias	OMIM:617466
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Thrombocytopenia, Anemia, Asplenia, Hypo...	OMIM:185070
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Ventricula...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Ventricula...	ORPHA:98853
Wilson Disease	Hepatitis, Abnormality of the menstrual cycle, Acute hepatitis, Splenomegaly, Hepatic steatosis, ...	ORPHA:905
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Mucolipidosis Iii Gamma	Aortic valve stenosis, Aortic regurgitation, Short neck, Hyperlordosis, Scoliosis, Kyphosis	OMIM:252605
Cohen Syndrome	Optic atrophy, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Chorioretinal dy...	ORPHA:193
Harrod Syndrome	Kyphosis, Scoliosis, Hypospadias, Cryptorchidism	ORPHA:2115
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonary arterial hyp...	OMIM:616028
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Short neck, Increased serum testosterone le...	ORPHA:247768
Mucopolysaccharidosis Type 3	Optic atrophy, Atrioventricular block, Recurrent tonsillitis, Pigmentary retinopathy, Abnormal fo...	ORPHA:581
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, Septate vagina, Hypoparathyr...	ORPHA:2237
Lymphoproliferative Syndrome, X-Linked, 1	Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B ce...	OMIM:308240
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:617690
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen...	OMIM:617442
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Arthrogryposis, Distal, Type 4	Lumbar scoliosis, Hypoplastic labia majora, Scoliosis, Kyphosis	OMIM:609128
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Spastic Paraplegia 46, Autosomal Recessive	Infertility, Scoliosis, Kyphosis	OMIM:614409
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Lateral Meningocele Syndrome	Cryptorchidism, Biconcave vertebral bodies, Ventricular septal defect, Bicuspid aortic valve, Sho...	OMIM:130720
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno...	ORPHA:64743
Arthrogryposis, Distal, Type 5	Retinal fold, Abnormality of retinal pigmentation, Scoliosis, Kyphosis	OMIM:108145
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive...	ORPHA:137675
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	OMIM:313400
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Splenomegaly, Hypothyroidism, Atrial septal defect, Hydroce...	OMIM:616843
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypospadias, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Scoliosi...	OMIM:619718
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee...	ORPHA:699
Autoimmune Lymphoproliferative Syndrome, Type Iia	Vasculitis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperp...	OMIM:603909
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Scoliosis, Kyphosis	ORPHA:2181
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Scoliosis, Cryptorchidism	OMIM:618143
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Distal Triplication 15Q	Abnormal heart morphology, Atrial septal defect, Hydrocele testis, Scoliosis, Kyphosis, Abnormal ...	ORPHA:314588
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul...	OMIM:201475
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Anemia	OMIM:618838
Chops Syndrome	Optic atrophy, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cervical C2/C3 ve...	OMIM:616368
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Beaking of ve...	OMIM:252500
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Bone Marrow Failure Syndrome 5	Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia	OMIM:618165
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Vitreoretinopathy, L...	OMIM:183900
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Intellectual Developmental Disorder, Autosomal Dominant 26	Scoliosis, Kyphosis	OMIM:615834
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Thanatophoric Dysplasia	Platyspondyly, Atrial septal defect, Abnormal sacroiliac joint morphology, Kyphosis	ORPHA:2655
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Mitral regurgitation, Ventricular septal defect, Thoracic scoliosis, Atrial septal defect, Kyphosis	OMIM:603387
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Low back ...	ORPHA:86843
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy	ORPHA:79292
Oeis Complex	Absence of the sacrum, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous gen...	OMIM:258040
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Cardiomyopathy, Cholestasis, Splenomeg...	ORPHA:264580
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Enlarged kidney	OMIM:618272
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Sandwich appearance of vertebral bodies, Pancytopenia, Splenomegaly, Hepatomegaly,...	OMIM:259700
Perrault Syndrome 4	Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased...	OMIM:615300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Kyphosis	OMIM:130060
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Mucopolysaccharidosis-Plus Syndrome	Chorioretinal hypopigmentation, Bone marrow hypocellularity, Optic atrophy, Congestive heart fail...	OMIM:617303
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia...	ORPHA:90794
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Scoliosis, Kyphosis, Ventricular septal defect	ORPHA:261190
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Clitoral hypertrophy, Ventricular septal defect, Pulmonary arterial hypertension, At...	OMIM:616449
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic...	OMIM:618419
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia, Hepatic steatosis	ORPHA:42
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ...	ORPHA:1677
Microphthalmia, Lenz Type	Hypospadias, Chorioretinal coloboma, Optic disc coloboma, Cryptorchidism, Hyperlordosis, Scoliosi...	ORPHA:568
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis	OMIM:606612
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Cardiomyopathy, Hepatic steatosis, Hepatomegaly, Hypothyroidism, Rod-cone dystr...	OMIM:212065
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Marinesco-Sjogren Syndrome	Scoliosis, Kyphosis, Hypergonadotropic hypogonadism	OMIM:248800
Lopes-Maciel-Rodan Syndrome	Scoliosis, Kyphosis	OMIM:617435
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splen...	OMIM:612541
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho...	OMIM:208540
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Scoliosis, Kyphosis	OMIM:617602
Mucopolysaccharidosis, Type Vi	Hypoplasia of the odontoid process, Sinus tachycardia, Cardiomyopathy, Anterior wedging of L1, Tr...	OMIM:253200
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Hepatomegaly, Splenomegaly, Retinal degeneration	OMIM:272200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Mucosal telangiectasiae, Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Abnormal heart valve morphology, Short neck, Hyperlordosis,...	ORPHA:582
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Optic disc pallor, Scoliosis, Kyphosis	OMIM:609541
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepati...	OMIM:614921
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
Wolman Disease	Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-m...	ORPHA:75233
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Opsismodysplasia	Hypoplastic vertebral bodies, Hepatomegaly, Splenomegaly, Abnormally ossified vertebrae	ORPHA:2746
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Abetalipoproteinemia	Hepatic fibrosis, Hypopigmentation of the fundus, Congestive heart failure, Acanthocytosis, Retic...	ORPHA:14
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundi...	OMIM:211600
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis	OMIM:605309
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Clitoral hypoplasia, Tricuspid regurgitation, Cryptorchidism, Patent for...	OMIM:616894
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Scoliosis, Cryptorchidism, Kyphosis	ORPHA:364028
Crisponi Syndrome	Sudden cardiac death, Scoliosis, Kyphosis	ORPHA:1545
Thanatophoric Dysplasia Type 2	Platyspondyly, Atrial septal defect, Kyphosis	ORPHA:93274
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis	ORPHA:85414
Bruck Syndrome 1	Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis	OMIM:259450
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Splenomegaly, Hepatic steatosis, Hepatomegaly, Prolonged QT interval, Hyperlord...	OMIM:613327
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Retinal detachment, Cervical instabili...	ORPHA:94068
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly, Cardiac...	OMIM:617713
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Decreased heart rate variability, Cryptorchidism, Hepatomegaly, Thrombocytopenia, Micro...	OMIM:619005
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis	OMIM:300676
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiom...	OMIM:620376
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Hypospadias, Aortic regurgitation, Cryptorchidism, Posterior pituitary hyp...	ORPHA:464311
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Splenomegaly, Arrhythmia, Pancr...	ORPHA:549
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Acro-Renal-Mandibular Syndrome	Uterus didelphys, Butterfly vertebrae, Short neck, Hemivertebrae, Bicornuate uterus, Scoliosis, K...	ORPHA:958
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Optic atrophy, Cardiomyopathy, Abnormal heart valve morphology, He...	ORPHA:217085
Koolen-De Vries Syndrome	Spondylolisthesis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Pulmonic ste...	OMIM:610443
Glycogen Storage Disease Ii	Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Subarachnoid hemorrhage, Ri...	OMIM:232300
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra...	ORPHA:93314
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Kyphosis, Ventricular septal defect	OMIM:619909
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
2Q31.1 Microdeletion Syndrome	Abnormality of the hypothalamus-pituitary axis, Optic disc coloboma, Cryptorchidism, Vertebral se...	ORPHA:251014
Mgat2-Cdg	Abnormal heart morphology, Ventricular septal defect, Hypoplastic nipples, Arrhythmia, Impaired l...	ORPHA:79329
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent...	OMIM:610199
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca...	OMIM:261740
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Optic atrophy, Cardiomyopathy, Abnormal heart valve morphology, He...	ORPHA:217093
Mucopolysaccharidosis Type 2	Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Abnorm...	ORPHA:580
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Myopathic Ehlers-Danlos Syndrome	Kyphosis, Scoliosis, Hyperlordosis, Kyphoscoliosis	ORPHA:536516
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly...	OMIM:201100
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th...	OMIM:158330
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Optic atrophy, Clitoral hypertrophy, Pigmentary retinopathy, Tricuspid regu...	OMIM:614866
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Optic atrophy, Abnormality of the vertebral column, Abnormal form ...	ORPHA:280
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus...	OMIM:146255
Joubert Syndrome With Hepatic Defect	Chorioretinal coloboma, Optic disc coloboma, Portal hypertension, Splenomegaly, Congenital hepati...	ORPHA:1454
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis	ORPHA:85193
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Cryptorchidism, Vertebral segmentation defe...	ORPHA:261318
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Rod-cone dystrophy, Retinal dystrophy	ORPHA:261222
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal sacroiliac joint morpholo...	ORPHA:32960
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Splenomegal...	ORPHA:2729
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Pulmonic stenos...	OMIM:620185
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Abnormal atrioventricular conduction, Congestive heart failure, Hype...	ORPHA:280365
3M Syndrome	Hypospadias, Increased vertebral height, Decreased fertility, Short neck, Hyperlordosis, Scoliosi...	ORPHA:2616
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid...	ORPHA:96191
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, Cardiomyopathy, Congestive heart failure, Increased hepatic glycogen content, Card...	OMIM:619259
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Hypogonadism, Posterior scallopi...	ORPHA:3042
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly, Vasculitis in the skin	OMIM:620296
X-Linked Intellectual Disability, Cabezas Type	Hypogonadism, Decreased testicular size, Short neck, Hypoplasia of penis, Scoliosis, Kyphosis	ORPHA:85293
Poland Syndrome	Acute leukemia, Abnormality of the liver, Cryptorchidism, Vertebral segmentation defect, Short ne...	ORPHA:2911
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Dyskeratosis Congenita	Bone marrow hypocellularity, Abnormal morphology of female internal genitalia, Splenomegaly, Disp...	ORPHA:1775
Bruck Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:2771
Cockayne Syndrome A	Irregular menstruation, Optic atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottlin...	OMIM:216400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Tricuspid regurgitation, Retinal arterial tortuosity, Splenic cyst...	OMIM:620371
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Scoliosis, Kyphosis, Ventricular septal defect	OMIM:620511
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormality of the vertebral column, Abdominal situs inversus, Hemivertebrae, Abnormal interverte...	ORPHA:2062
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Subdural hemorrhage, Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple	OMIM:618291
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis, Cryptorchidism	OMIM:619244
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ...	OMIM:607326
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm...	OMIM:301078
Myhre Syndrome	Platyspondyly, Aortic valve stenosis, Enlarged vertebral pedicles, Cryptorchidism, Ventricular se...	OMIM:139210
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Hepatomegaly, Atrial fibril...	OMIM:300842
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Aortic valve calcification, Cholelithiasis, Bacterial endocarditis, Hepat...	ORPHA:2072
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Vitreoretinopathy, Biconcave vertebral bodies, Kyphoscoliosis, Ventricular septal ...	OMIM:259770
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Increased circulating ACTH level, Biconcave vertebral bodies, Oligomenorrhea, ...	OMIM:219090
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea...	ORPHA:785
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Spina bifida occulta, Hyp...	OMIM:119500
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Hypertrophic cardiomyopathy, Labial hypertrophy, Hyperinsulinemia, Decrease...	OMIM:269700
Proteus Syndrome	Retinal nonattachment, Long penis, Thymus hyperplasia, Abnormal form of the vertebral bodies, Dia...	ORPHA:744
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes...	OMIM:278850
Developmental Malformations-Deafness-Dystonia Syndrome	Achalasia, Scoliosis, Kyphosis	ORPHA:79107
Gaucher Disease, Perinatal Lethal	Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:608013
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Irregular menstruation, Congestive heart failure, Lumbar hyperlordosis, Pulmonary ...	OMIM:616482
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly...	OMIM:102700
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega...	OMIM:130650
Wolf-Hirschhorn Syndrome	Precocious puberty, Accessory spleen, Abnormal form of the vertebral bodies, Cryptorchidism, Vent...	OMIM:194190
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta...	OMIM:613812
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Clitoral hypertrophy, Pigmentary retinopathy, Histiocytoid cardio...	OMIM:309801
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Optic atrophy, Supernumerary nipple, Hypogonadism, Decreased testicular siz...	ORPHA:261349
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Cryptorchidism, Sple...	OMIM:613563
4Q21 Microdeletion Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:238750
1P36 Deletion Syndrome	Optic atrophy, Dilated cardiomyopathy, Annular pancreas, Spinal canal stenosis, Abnormal female e...	ORPHA:1606
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega...	ORPHA:51
Ogden Syndrome	Torsade de pointes, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Short neck,...	OMIM:300855
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Pycnodysostosis	Spondylolysis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Spondyl...	ORPHA:763
Familial Mediterranean Fever	Vasculitis, Ascites, Leukocytosis, Splenomegaly, Orchitis, Low back pain, Arrhythmia, Peritonitis...	ORPHA:342
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Scoliosis, K...	ORPHA:88628
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Estrogen Resistance	Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul...	OMIM:615363
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Abnormality of...	ORPHA:394
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Decre...	ORPHA:508533
Amyloidosis, Hereditary Systemic 1	Cardiomyopathy, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Amyloid depos...	OMIM:105210
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v...	ORPHA:91387
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hypogonadism, Cryptorchidism, Micropenis, Scoliosis, Kyphosis	ORPHA:500055
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hematochezia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, M...	OMIM:620565
Coffin-Lowry Syndrome	Optic atrophy, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnorm...	ORPHA:192
Prader-Willi Syndrome	Precocious puberty, Small scrotum, Decreased response to growth hormone stimulation test, Externa...	OMIM:176270
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Abnormality of retinal pigmentation, Abnormal mitral valve morp...	ORPHA:1969
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Platyspondyly, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, ...	OMIM:245600
Steinfeld Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Retinal coloboma, Abnormal he...	OMIM:184705
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Hypospadias, Aortic regurgitation, Breast hypoplasia, Cryptorchidism, Vent...	ORPHA:464306
Spondyloenchondrodysplasia	Platyspondyly, Vasculitis, Hepatitis, Decreased response to growth hormone stimulation test, Panc...	ORPHA:1855
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, I...	OMIM:301068
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos...	OMIM:618278
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Cholelithiasis, Male urethral meatus stenosis, Ventricular septal defect, Pulmonary ...	ORPHA:464738
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Palpitations, Spleno...	ORPHA:565612
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Supernumerary nipple, Polysplenia, Bundle branch block, Cryptorchidism, Pancreati...	ORPHA:373
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Chordee, Retinal detachment, Hy...	ORPHA:268261
Q Fever	Vasculitis, Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of the li...	ORPHA:781
Hajdu-Cheney Syndrome	Aortic valve stenosis, Hypoplastic 5th lumbar vertebrae, Mitral stenosis, Biconcave vertebral bod...	ORPHA:955
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Hepatomegaly, Epididymitis, Endocarditis, Abnorma...	ORPHA:1304
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Spondylolisthesis, Mitral regurgitation, Beaking of vertebral bodie...	OMIM:208400
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Clitoral hypertrophy, Cardiomyopathy, Labial hypertrophy, Hyperinsulinemia, S...	OMIM:608594
Ramon Syndrome	Pigmentary retinopathy, Enlarged labia minora, Telangiectasia, Optic disc pallor, Scoliosis, Kyph...	OMIM:266270
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Hypoplastic sacrum, Aplasia of the uterus, Short neck, Anemia, Micro...	OMIM:614083
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia, Hepatic steatosis	OMIM:255120
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular...	OMIM:274000
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, General...	ORPHA:829
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ...	ORPHA:90033
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Scoliosis, Kyphosis	ORPHA:1883
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonit...	ORPHA:131
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane...	OMIM:616084
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto...	OMIM:185000
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Kyphosis	OMIM:151800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Retinal hemorrhage, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Epididymitis...	ORPHA:99827
Atypical Rett Syndrome	Scoliosis, Kyphosis	ORPHA:3095
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Abnormal heart morphology, Tetralogy of Fallot, Lymphopen...	ORPHA:84064
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension, Scoliosis, Kyphosis, Biconcave vertebral bodies	OMIM:259420
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scoliosis, Kyphosis, Ventricular septal defect	OMIM:617061
Cockayne Syndrome Type 3	Kyphosis, Subdural hemorrhage, Cardiomyopathy, Splenomegaly, Retinal degeneration, Hepatomegaly, ...	ORPHA:90324
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Hepatomegaly, Scoliosis, Kyphosis	OMIM:618443
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Atrial septal defect, Scoliosis, Kyphosis	OMIM:617190
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventricular hypertrophy, L...	ORPHA:308552
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:457077
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Hepatomegaly, Splenomegaly, Fused cervical vertebrae	OMIM:612852
Familial Aortic Dissection	Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function	ORPHA:229
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Autosomal Recessive Robinow Syndrome	Hypoplastic female external genitalia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, ...	ORPHA:1507
Thanatophoric Dysplasia Type 1	Platyspondyly, Atrial septal defect, Abnormal sacroiliac joint morphology, Kyphosis	ORPHA:1860
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Scoliosis, Splenomegaly	OMIM:612918
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Increased circu...	OMIM:610489
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Dilated cardiomyopathy, Vasculitis, Optic ...	OMIM:615688
Chediak-Higashi Syndrome	Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneo...	OMIM:214500
Wieacker-Wolff Syndrome	Kyphosis, Short neck, Scoliosis, Hyperlordosis	OMIM:314580
Polycythemia Vera	Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Behçet Disease	Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische...	ORPHA:117
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia, Menorrhagia	OMIM:139090
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hepatome...	ORPHA:77261
Classical-Like Ehlers-Danlos Syndrome Type 2	Cryptorchidism, Mitral valve prolapse, Thoracic scoliosis, Kyphoscoliosis, Pericardial effusion, ...	ORPHA:536532
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Rectovaginal fistula, Optic atrophy, Kyphosis	OMIM:619708
Monosomy 9Q22.3	Abnormality of the vertebral column, Retinopathy, Cardiac fibroma, Ovarian fibroma, Short neck, K...	ORPHA:77301
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Optic nerve hypoplasia, Bilateral c...	OMIM:602535
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Mend Syndrome	Aortic valve stenosis, Abnormal heart morphology, Cryptorchidism, Kyphosis, Sacral dimple	ORPHA:401973
Pelizaeus-Merzbacher Disease	Optic atrophy, Scoliosis, Kyphosis	ORPHA:702
Koolen-De Vries Syndrome Due To A Point Mutation	Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypospadi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypospadi...	ORPHA:363958
Typical Nemaline Myopathy	Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:171436
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened PR interval, Cardio...	ORPHA:365
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis...	OMIM:177170
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Trisomy 9P	Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:236
Mend Syndrome	Aortic valve stenosis, Cryptorchidism, Macular hypoplasia, Kyphosis, Sacral dimple	OMIM:300960
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Abnormal curvature of the vertebral column...	ORPHA:93360
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Cardiomegaly, Hepatic calcification, A...	OMIM:608836
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Thoracic scoliosis, Bradycardia, Scoliosis, Kyphosis, Spinal rigidity	OMIM:620351
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Small scrotum, Scoliosis, Cryptorchidism	ORPHA:2215
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Desbuquois Dysplasia 1	Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis	OMIM:251450
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Zimmermann-Laband Syndrome 1	Long penis, Cardiomyopathy, Splenomegaly, Hepatomegaly, Spina bifida occulta, Scoliosis	OMIM:135500
Cowden Syndrome	Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the uterus, Goiter, Endom...	ORPHA:201
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Campomelic Dysplasia	Male pseudohermaphroditism, Ambiguous genitalia, Short neck, Poorly ossified cervical vertebrae, ...	ORPHA:140
Achondroplasia	Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos...	ORPHA:15
Phocomelia, Schinzel Type	Aplasia/Hypoplasia of the sacrum, Cryptorchidism, Aplasia of the uterus, Short neck, Hypoplasia o...	ORPHA:2879
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Scoliosis, Aplasia of the vagina, Optic nerve hypoplasia	ORPHA:457284
Marden-Walker Syndrome	Abnormal penis morphology, Hypospadias, Abnormal form of the vertebral bodies, Situs inversus tot...	ORPHA:2461
22Q11.2 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Hypoparathyroidism, ...	ORPHA:567
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Absence of pubertal devel...	ORPHA:191
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Splenomegaly, Cryptorchidism, Hepatomegaly, Arrhythmia, Mi...	OMIM:133540
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, S...	OMIM:614527
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Lu...	OMIM:143095
Multiple Pterygium Syndrome, Escobar Variant	Anterior clefting of vertebral bodies, Cryptorchidism, Short neck, Hypoplastic nipples, Thoracolu...	OMIM:265000
Acromegaly	Impotence, Long penis, Pituitary prolactin cell adenoma, Anterior hypopituitarism, Pituitary grow...	ORPHA:963
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Aspartylglucosaminuria	Abnormal vertebral morphology, Splenomegaly, Hepatomegaly, Beaking of vertebral bodies, Anterior ...	ORPHA:93
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, Hepatomegaly, Pericarditis	OMIM:249100
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Splenomegaly, Aplasia of the epiglottis, Hepatom...	OMIM:617088
Beckwith-Wiedemann Syndrome	Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine ...	ORPHA:116
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Scoliosis, Kyphosis	OMIM:301041
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I...	OMIM:603546
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced...	ORPHA:980
Digeorge Syndrome	Decreased circulating parathyroid hormone level, Cholelithiasis, Parathyroid hypoplasia, Tetralog...	OMIM:188400
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Williams Syndrome	Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular...	ORPHA:904
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Arrhythmia, Abnormal myoc...	ORPHA:228308
Multiple Endocrine Neoplasia, Type Iib	Elevated circulating calcitonin concentration, Pheochromocytoma, Parathyroid hyperplasia, Medulla...	OMIM:162300
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Hypogonadism, De...	ORPHA:3464
Somatomammotropinoma	Impotence, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin c...	ORPHA:314769
Paget Disease Of Bone 5, Juvenile-Onset	Retinopathy, Angioid streaks of the fundus, Retinal degeneration, Kyphosis, Macular scar	OMIM:239000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Rett Syndrome	Prolonged QTc interval, Scoliosis, Kyphosis, Abnormal T-wave	OMIM:312750
Ullrich Congenital Muscular Dystrophy 1A	Scoliosis, Kyphosis, Spinal rigidity	OMIM:254090
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Cryptorchidism, Kyphoscoliosis, Testicular atrophy, Hypospadias,...	ORPHA:3063
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord...	OMIM:618019
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hemateme...	OMIM:263200
Alexander Disease	Precocious puberty, Hypotension, Hypertension, Short neck, Hypothyroidism, Hyperlordosis, Sudden ...	ORPHA:58
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Alkaptonuria	Aortic valve calcification, Intervertebral disk degeneration, Low back pain, Mitral valve calcifi...	OMIM:203500
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinoge...	OMIM:263700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Optic atrophy, Platyspondyly, Kyphosis	OMIM:618476
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia, Increas...	OMIM:153670
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m...	ORPHA:71493
Bohring-Opitz Syndrome	Optic atrophy, Cholelithiasis, Annular pancreas, Cardiomegaly, Retinal atrophy, Abnormal cardiac ...	ORPHA:97297
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Abnormal T-wave, Decreased serum ...	OMIM:241080
Smith-Lemli-Opitz Syndrome	Optic atrophy, Clitoral hypertrophy, Abnormal form of the vertebral bodies, Atrioventricular cana...	ORPHA:818
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular...	OMIM:236680
Glycogen Storage Disease Ib	Splenomegaly, Delayed puberty, Pancreatitis, Neutropenia, Pancreatic fibrosis, Hepatomegaly, Lipe...	OMIM:232220
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly, Lipemia retinalis	OMIM:207750
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
Norrie Disease	Optic atrophy, Uterine rupture, Cryptorchidism, Abnormal vitreous humor morphology, Abnormal reti...	ORPHA:649
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Jaberi-Elahi Syndrome	Optic atrophy, Scoliosis, Kyphosis	OMIM:617988
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Cole-Carpenter Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2050
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Abn...	ORPHA:322
Cdags Syndrome	Rectovaginal fistula, Hypospadias, Kyphosis	OMIM:603116
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy	ORPHA:158687
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Parotitis...	OMIM:256040
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of...	ORPHA:284339
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Diabetes mel...	OMIM:610717
Osteogenesis Imperfecta	Aortic regurgitation, Cervical kyphosis, Abnormal form of the vertebral bodies, Enlarged vertebra...	ORPHA:666
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis	ORPHA:261144
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:1005
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Choroidal neovascularization, Adrenal calcification, Ascites, Left ventr...	ORPHA:51608
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction	OMIM:208000
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly...	ORPHA:64
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Weaver Syndrome	Kyphosis, Hydrocele testis, Scoliosis, Cryptorchidism	OMIM:277590
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia	OMIM:617914
Isolated Biliary Atresia	Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n...	ORPHA:30391
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v...	OMIM:223800
Multiple Myeloma	Anemia, Splenomegaly, Vertebral compression fracture, Lymphadenopathy	ORPHA:29073
Schwartz-Jampel Syndrome	Platyspondyly, Decreased testicular size, Abnormally straight spine, Short neck, Arrhythmia, Pulm...	ORPHA:800
Spondyloperipheral Dysplasia	Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates	OMIM:271700
Cole-Carpenter Syndrome 2	Platyspondyly, Kyphosis	OMIM:616294
Steinert Myotonic Dystrophy	Hyperinsulinemia, Decreased fertility, Prolonged PR interval, Secondary hyperparathyroidism, Male...	ORPHA:273
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Mitral valve prolapse, Anterior concavity of thoracic vertebrae, K...	OMIM:249420
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Short neck...	ORPHA:99413
Mosaic Monosomy X	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Short neck...	ORPHA:99228
Monosomy X	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Short neck...	ORPHA:99226
Turner Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Short neck...	ORPHA:881
Dysostosis, Stanescu Type	Kyphosis, Short neck, Scoliosis, Hyperlordosis	ORPHA:1798
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
17Q11 Microdeletion Syndrome	Precocious puberty, Elevated circulating parathyroid hormone level, Abnormality of the vertebral ...	ORPHA:97685
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:609441
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Hypospadias, Kyphosis	OMIM:609944
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aplasia of ...	OMIM:135900
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Scoliosis, Kyphosis	OMIM:618493
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Splenomegaly, Hepatic steatosis, Biliary h...	ORPHA:567983
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Sacroiliac arthritis, Back pain, Arrhythmia, Kyphosis	OMIM:106300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Scoliosis, Kyphosis, Complete atrioventricular canal defect	ORPHA:476126
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Arrhythmia, Kyphosis, Ventricular septal defect	OMIM:153400
Lesch-Nyhan Syndrome	Testicular atrophy, Megaloblastic anemia	OMIM:300322
Neurofibromatosis Type 1	Precocious puberty, Chronic myelogenous leukemia, Chorioretinal coloboma, Pheochromocytoma, Crypt...	ORPHA:636
Hyperlipoproteinemia, Type I	Hepatosplenomegaly, Splenomegaly, Lipemia retinalis, Jaundice, Acute pancreatitis	OMIM:238600
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Kyphosis, Mitral valve prolapse	OMIM:616914
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Scoliosis, Kyphosis	ORPHA:2479
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis	ORPHA:88644
Blau Syndrome	Abnormal optic nerve morphology, Large vessel vasculitis, Abnormality of the liver, Splenomegaly,...	ORPHA:90340
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis, Hepatomegaly	OMIM:615947
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Cryptorchidism, Scoliosis, ...	ORPHA:2658
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, B...	OMIM:137920
Zttk Syndrome	Aortic regurgitation, Optic atrophy, Absent gallbladder, Ventricular septal defect, Atrial septal...	OMIM:617140
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Uterine rupture, Arterial rupture, Cystocele, Hemothorax, Cryptorchi...	OMIM:130050
Cono-Spondylar Dysplasia	Short neck, Scoliosis, Kyphosis	ORPHA:420794
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Supernumerary nipple, Cryptorchidism, Short neck, Scoliosis, Kyphosis	OMIM:619194
Yunis-Varon Syndrome	Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def...	ORPHA:3472
Brown-Vialetto-Van Laere Syndrome 1	Scoliosis, Kyphosis	OMIM:211530
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Pancytopenia, Splenomegaly, Chorioretinitis, Hepatomegaly, Ge...	OMIM:181000
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Ascites, Splenomegaly, Pancreatic islet...	OMIM:276700
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty	OMIM:615866
Peters Plus Syndrome	Hypoplastic left heart, Optic atrophy, Sacral dimple, Congenital hypothyroidism, Cryptorchidism, ...	ORPHA:709
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Peters-Plus Syndrome	Retinal coloboma, Cryptorchidism, Ventricular septal defect, Biliary tract abnormality, Hypoplast...	OMIM:261540
Stickler Syndrome	Platyspondyly, Abnormal form of the vertebral bodies, Spinal canal stenosis, Spondylolisthesis, M...	ORPHA:828
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,...	OMIM:110100
Neu-Laxova Syndrome 1	Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Short neck, Transposition of the...	OMIM:256520
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Total anomalous pulmonary venous return, Cardiomyopathy, Supernumerary nipple, Polys...	OMIM:312870
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar...	ORPHA:95430
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Gastrointestinal hemorrhage, Periportal fibrosis, Cholestasis, Ascites, Hepatos...	ORPHA:731
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Cherry red spot of the macula, Abnormal heart valve morphology, Hypersplenism, Sp...	ORPHA:77293
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Pilonidal sinus, Aplasia of the uterus, Anteriorly displaced genit...	OMIM:276820
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Abnormal abdomen morphology, Bifid scrotum, Congestive heart failure, Chori...	OMIM:619475
Loeys-Dietz Syndrome	Cardiac arrest, Scoliosis, Uterine rupture	ORPHA:60030
Intellectual Developmental Disorder, Autosomal Dominant 73	Premature adrenarche, Lumbar hyperlordosis, Cryptorchidism, Thoracolumbar scoliosis, Hyperlordosi...	OMIM:620450
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis	OMIM:610915
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hepatomega...	OMIM:243800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Congenital hypothyroidism, Kyphosis	OMIM:617527
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Hypertension	ORPHA:2769
Townes-Brocks Syndrome 1	Bifid scrotum, Chorioretinal coloboma, Tetralogy of Fallot, Cryptorchidism, Ventricular septal de...	OMIM:107480
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple	ORPHA:1521
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Prominent protruding coccyx, Short neck, Prominent coccyx, Scoliosis, Kyphosis, Sacral dimple	OMIM:300966
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone con...	ORPHA:534
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Spondylolisthesis, Mitral valve prolapse, Mitral ...	ORPHA:558
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Scoliosis, Kyphosis	OMIM:619557
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Kyphosis	ORPHA:521426
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis	OMIM:613454
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Ineffective esophageal peristalsis, Sinus bradycardia, Achalasia, Scoliosis, Kyphosis	OMIM:619482
Wrinkly Skin Syndrome	Muscular ventricular septal defect, Cryptorchidism, Atrial septal dilatation, Scoliosis, Kyphosis	OMIM:278250
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Hypospadias, Kyphosis	ORPHA:85199
Cerebrocostomandibular Syndrome	Kyphosis, Ventricular septal defect	ORPHA:1393
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral...	OMIM:182250
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Micropenis, Lumbar hyperlordosis, Kyphosis, Kyphoscoliosis	ORPHA:457359
Sotos Syndrome	Abnormal vertebral morphology, Scoliosis, Abnormal heart morphology, Decreased fertility, Cryptor...	ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 57	Scoliosis, Kyphosis	OMIM:618050
Branchiooculofacial Syndrome	Supernumerary nipple, Retinal coloboma, Ectopic thymus tissue, Cryptorchidism, Short neck, Hyperl...	OMIM:113620
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Supernumerary nipple, Hypertrophic cardiomyopathy, Cryptorc...	OMIM:601803
Coffin-Lowry Syndrome	Mitral regurgitation, Uterine prolapse, Lumbar kyphosis, Scoliosis, Kyphosis	OMIM:303600
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Scoliosis, Cryptorchidism, Kyphosis	OMIM:309000
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Kyphosis	ORPHA:171629
Viss Syndrome	Coronary sinus enlargement, Right ventricular dilatation, Hypereosinophilia, Butterfly vertebrae,...	OMIM:619472
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Cryptorchidism...	ORPHA:2273
Occipital Horn Syndrome	Platyspondyly, Hepatitis, Cholestasis, Jaundice, Scoliosis, Kyphosis	ORPHA:198
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Abnormal heart valve morphology, Transient ischemic attack, Cystocele, Cryptorch...	ORPHA:286
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Scoliosis, Kyphosis	OMIM:182210
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Occipital Horn Syndrome	Platyspondyly, Kyphosis, Orthostatic hypotension	OMIM:304150
Primrose Syndrome	Bilateral cryptorchidism, Cryptorchidism, Posterior scalloping of vertebral bodies, Hypothyroidis...	OMIM:259050
Yunis-Varon Syndrome	Absent nipple, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Anterior concavity of thoraci...	OMIM:216340
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,...	OMIM:300106

Histopathology

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

There is no histopathology data for Calb1

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 Calb1.

No publications found that use IMPC mice or data for Calb1.

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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
Calb1^{em1(IMPC)Ccpcz}	Inter-exon deletion	Mice
Calb1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Calb1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	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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Gene: Calb1 MGI:88248

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Calb1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data