Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
increased cardiac muscle contractility Calb1em1(IMPC)Ccpcz HOM Early adult 9.97×10-07
abnormal testis morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart left ventricle morphology Calb1em1(IMPC)Ccpcz HOM Early adult 2.96×10-05
kyphosis Calb1em1(IMPC)Ccpcz HOM Early adult 1.77×10-05
small spleen Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spine curvature Calb1em1(IMPC)Ccpcz HOM   Early adult 6.73×10-05
enlarged spleen Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebrae morphology Calb1em1(IMPC)Ccpcz HOM Early adult 1.19×10-10
abnormal vertebral arch morphology Calb1em1(IMPC)Ccpcz HOM Early adult 6.73×10-11
enlarged heart Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal uterus morphology Calb1em1(IMPC)Ccpcz HOM Early adult 0.00
hydrometra Calb1em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Angelman syndrome (Type 1)
EEG abnormality, Truncal ataxia DECIPHER:4
Angelman syndrome (Type 2)
EEG abnormality, Truncal ataxia DECIPHER:54
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Posterior Column Ataxia
Impaired proprioception, Impaired vibratory sensation, Ataxia OMIM:176250
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia OMIM:168885
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Megalencephaly With Dysmyelination
EEG with photoparoxysmal response, Ataxia, Spasticity OMIM:249240
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Ataxia, EEG abnormality, Spasticity OMIM:619228
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Autosomal Recessive Spastic Paraplegia Type 27
Impaired vibration sensation at ankles, Dysdiadochokinesis, Babinski sign, Spastic paraplegia, Ab... ORPHA:101007
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:2672
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Limb ataxia OMIM:617769
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... ORPHA:308
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... OMIM:601068
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Macroorchidism, Cardiomegaly, Congestive heart failure OMIM:300886
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations OMIM:183050
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials OMIM:618876
Sandhoff Disease
Kyphosis, Hepatomegaly, Congestive heart failure, Splenomegaly ORPHA:796
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Dysmetria, Myoclonus, Dysdiadochok... OMIM:256731
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Interictal e... OMIM:254800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Decreased motor nerve conduction veloc... OMIM:601098
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Ethanolaminosis
Cardiomegaly OMIM:227150
Hurler-Scheie Syndrome
Spinal canal stenosis, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal vertebral... ORPHA:93476
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy,... OMIM:618234
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... OMIM:607876
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropi... OMIM:235200
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Abnormal form of the vertebral ... ORPHA:1354
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Ar... OMIM:602390
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Anem... OMIM:613313
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis, Dilated cardiomyopathy OMIM:300718
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Micropenis, Cervical spinal canal stenosis, Scoliosis, Delayed puberty, Hypoplasia of t... OMIM:301900
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal form of the vertebral bodies, Splenomegaly ORPHA:1802
Episodic Ataxia, Type 5
Ataxia, EEG with spike-wave complexes, Myoclonus, Truncal ataxia, EEG with generalized spikes, Ep... OMIM:613855
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Kyphosis, Abnormal testis morphology, Scoliosis ORPHA:1548
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis OMIM:168400
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Fetal Akinesia Deformation Sequence 4
Kyphosis, Cryptorchidism, Short neck OMIM:618393
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism, Prolonged neonatal jaundice OMIM:618512
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Aortic valve stenosis, Tricuspid regurgitation, Macroorchidism, Mitral regurgitat... ORPHA:324410
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity OMIM:617691
Attrv122I Amyloidosis
Angina pectoris, Spinal canal stenosis, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve sten... ORPHA:85451
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Brachyolmia Type 1, Hobaek Type
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... OMIM:271530
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, Cardiom... OMIM:252920
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Scoliosis, Cardiomegaly, Congestive heart failure OMIM:618654
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility, Platyspondyly, Scoliosis, Splenomegaly OMIM:602271
Null Syndrome
Ataxia, Inability to walk, Decreased nerve conduction velocity, Progressive spastic quadriplegia,... ORPHA:280234
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Arrhythmia OMIM:618453
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperlordo... ORPHA:3085
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Gm1-Gangliosidosis, Type I
Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly, Vacuolated lym... OMIM:230500
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular... OMIM:619123
Mirage Syndrome
Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, ... OMIM:617053
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Arrhythmia, Dilated cardiomyopathy OMIM:615084
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Gonadal dysgenesis, male, Kyphosis, Male pseudohermaphroditis... ORPHA:2075
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis, Premature pubarch... OMIM:612847
Widow'S Peak Syndrome
Kyphosis, Cryptorchidism, Shawl scrotum OMIM:314570
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Decreased serum te... ORPHA:465508
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis, Lymphangioma, Splenomegaly OMIM:176920
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly, Congestive heart failure OMIM:269920
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,... ORPHA:98772
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Increased serum serotonin ORPHA:85288
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Anemia, Scoliosis, Delayed puberty ORPHA:2598
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Hepatomegaly, Cryptorchidism, Scoliosis, Hypogonadism, Telangiectasia, Hepatic steatosi... OMIM:615381
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Cryptorchidism, Short neck, Scoliosis ORPHA:178148
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Atrial septal defect, Scoliosis, Cryptorchidism, Abnormal heart morphology ORPHA:352490
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Cryptorchidism, Short neck, Scoliosis OMIM:611890
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism OMIM:618165
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Gaucher Disease Type 1
Kyphosis, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Biliary tract obstruction, Pulmonary... ORPHA:77259
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Ascites, Anemia, Lymphadenopathy, Jaundice, Cardiomegaly ORPHA:858
Shashi-Pena Syndrome
Kyphosis, Atrial septal defect, Scoliosis OMIM:617190
Transaldolase Deficiency
Telangiectasia, Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Splenomegaly, Cirrhos... OMIM:606003
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Anomalous pulmonary venous return, Hypospadias, Short ne... ORPHA:2311
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Multilobulated spleen, Pulmoni... OMIM:601186
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Ventricular septal defect, Overriding a... OMIM:617022
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hyp... ORPHA:848
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Type II diabetes mellitus, Membranous subvalvular aortic stenosis, Short neck, Arrhythm... ORPHA:3191
Roifman Syndrome
Irregular vertebral endplates, Hepatomegaly, Splenomegaly, Biconvex vertebral bodies, Eosinophili... OMIM:616651
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, B... OMIM:618652
Mend Syndrome
Kyphosis, Cryptorchidism, Aortic valve stenosis OMIM:300960
Gaucher Disease, Type I
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyper... OMIM:230800
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Supernume... OMIM:609813
Diabetic Embryopathy
Vertebral segmentation defect, Micropenis, Tetralogy of Fallot, Abnormality of the pancreas, Vent... ORPHA:1926
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Kyphosis, Hepatomegaly, Hepatosplenomegaly, Short neck, Ascit... OMIM:608776
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Cryptorchidism, Scoliosis ORPHA:2617
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Hepatomegaly, Narrow vertebral interpedicular distance, Splenomegaly, Short... OMIM:602557
Sialidosis Type 2
Kyphosis, Ascites, Hepatomegaly, Splenomegaly ORPHA:87876
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Sclerotic vertebral endplates, A... OMIM:611490
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Abnormal hear... ORPHA:3092
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Familial Atrial Myxoma
Bacterial endocarditis, Tricuspid regurgitation, Cardiac myxoma, Cholestasis, Heart murmur, Pulmo... ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... ORPHA:860
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Arrhythmia, Neuropathic spinal arthrop... ORPHA:352447
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoliosis, Asymmetric septal hypertrophy OMIM:252900
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Winchester Syndrome
Kyphosis OMIM:277950
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Fucosidosis
Lumbar hyperlordosis, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Anterior beaking of lum... OMIM:230000
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Abnormal thoracic spine morphology, Metrorrhagia, Abnormal spleen mor... ORPHA:464329
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Cryptorchidism, Scoliosis, Kyphoscoliosis OMIM:618484
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Spina bifida occulta, Hyperlordosis, Abnorm... ORPHA:1797
Mucopolysaccharidosis Type 6
Kyphosis, Splenomegaly, Short neck, Ovoid vertebral bodies, Abnormal heart valve morphology ORPHA:583
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Hypertrophic cardiomyopathy OMIM:618237
Coronary Arterial Fistula
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... ORPHA:2041
Myofibrillar Myopathy 10
Kyphosis, Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval OMIM:619040
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Bone-marrow foam cells, Cardiomyopat... OMIM:256550
Mcdonough Syndrome
Kyphosis, Cryptorchidism, Scoliosis ORPHA:2471
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Short neck, Platyspondyly, Ovoid... OMIM:239850
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty OMIM:180870
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Cardiomyopathy, Cardiomegaly OMIM:617713
Becker Nevus Syndrome
Kyphosis, Supernumerary nipple, Scoliosis, Spina bifida occulta, Hypoplastic labia minora, Abnorm... ORPHA:64755
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Kyphoscoliosis, Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vert... OMIM:252930
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Hepatomegaly, Congestive heart failure, Myofi... OMIM:115197
Mucolipidosis Iii Gamma
Kyphosis, Aortic valve stenosis, Short neck, Scoliosis, Hyperlordosis, Aortic regurgitation OMIM:252605
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Alpha-Mannosidosis
Kyphosis, Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Short neck, Scoliosis ORPHA:61
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Hypospadias, Short neck, Hyperlordosis, Fused cervica... ORPHA:2522
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Dentatorubral Pallidoluysian Atrophy
Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia, Dysmetria, Blepha... ORPHA:101
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis OMIM:230650
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Unilateral cryptorchidism, Hepat... OMIM:618280
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Anemia, Ascites ORPHA:1046
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect, Hypoplastic spleen ORPHA:89844
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Tachycardia, Hypertension, Jaundice OMIM:121300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Abnormality of the cervical spine ORPHA:48431
Infantile Liver Failure Syndrome 3
Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly, Splenomegaly, Platyspond... OMIM:618641
Attrv30M Amyloidosis
Atrioventricular block, Impotence, Arrhythmia, Cardiomyopathy, Cardiomegaly ORPHA:85447
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Mogs-Cdg
Hydrocele testis, Thoracic scoliosis, Hepatomegaly, Atrial septal defect, External genital hypopl... ORPHA:79330
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Premature ovarian insufficiency, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Gastrointestinal hemorrhage, Ne... ORPHA:79301
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal for... ORPHA:3109
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Mitral regurgitation, Scoliosis, Ventricular hypertrophy, Hypertrophic cardiomyopathy, ... OMIM:300280
Meacham Syndrome
Abnormal vagina morphology, Anomalous pulmonary venous return, Aortic valve stenosis, Atrial sept... ORPHA:3097
Clark-Baraitser syndrome
Kyphosis, Scoliosis, Macroorchidism OMIM:300602
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Cryptorchidism, Scoliosis OMIM:619797
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly, Scoliosis, Hypothyroidism, Thoracic kyphosis, Lacunar stroke, Cryptor... OMIM:618440
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
19P13.12 Microdeletion Syndrome
Kyphosis, Precocious puberty, Atrial septal defect, Mitral regurgitation, Hypospadias, Short neck... ORPHA:254346
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Scoliosis, Tetralogy of Fallot, Fused cervical vertebrae, Apl... ORPHA:3320
Primary Lipodystrophy
Angina pectoris, Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Menometrorrhag... ORPHA:90970
Ataxia With Vitamin E Deficiency
Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Abnormality of central somatosensor... OMIM:277460
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Hy... ORPHA:3130
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial s... ORPHA:210122
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Mucopolysaccharidosis, Type Vii
Kyphosis, Hepatomegaly, Splenomegaly, Anterior beaking of lumbar vertebrae, Short neck, Platyspon... OMIM:253220
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Abnormal cardiac septum morphology, Scoliosis, Hypospadias OMIM:616449
Alpha-N-Acetylgalactosaminidase Deficiency
Scoliosis, Cardiomegaly ORPHA:3137
Fucosidosis
Kyphosis, Hepatomegaly, Anterior beaking of lumbar vertebrae, Abnormality of the gallbladder, Hyp... ORPHA:349
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Priapism, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cell... OMIM:603903
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Pulmona... ORPHA:2414
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented m... OMIM:610475
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Hepatomegaly, Atrial septal defect, Decreased response to growth hormone stimulati... OMIM:602782
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatosplenomegaly, Short nec... ORPHA:1655
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Primary amenorrhea, Oligomenor... ORPHA:79083
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous splenoportal ven... OMIM:271500
Atkin-Flaitz Syndrome
Kyphosis, Scoliosis, Macroorchidism OMIM:300431
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Hypospadias, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Micropenis, Hypospadias, Decreased testicular size, Hypogonadism, Delayed puberty, Cryp... OMIM:300354
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Scoliosis OMIM:618291
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cirrhosis, Left ventricular diastolic dysfunction, Third ... ORPHA:57777
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Short neck, Severe platyspondyly, Hypertension, Pulmonary arterial hypertensio... OMIM:613320
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Short neck, Platyspondyly, Cardiomegaly, Ventricular septal defect, Hype... OMIM:616897
Gaucher Disease Type 2
Cardiac arrest, Hepatomegaly, Splenomegaly ORPHA:77260
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Decreased carnitine level in liver, Hypertrophic cardio... OMIM:212140
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Hypoplasia of penis, Short neck, Spina bifida occulta, Hypogonadism, Small scrotum ORPHA:2983
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Cold Agglutinin Disease
Hepatomegaly, Back pain, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
3C Syndrome
Abnormal mitral valve morphology, Kyphosis, Aortic valve stenosis, Atrial septal defect, Hypoplas... ORPHA:7
Urban-Rogers-Meyer Syndrome
Kyphosis, Hypoplasia of penis, Short neck, Hypogonadism, Cryptorchidism ORPHA:3409
Alg1-Cdg
Kyphosis, Scoliosis, Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Emanuel Syndrome
Kyphosis, Aortic valve stenosis, Atrial septal defect, Micropenis, Pulmonic stenosis, Scoliosis, ... OMIM:609029
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
8P11.2 Deletion Syndrome
Atrial septal defect, Hypoplasia of penis, Spherocytosis, Splenomegaly, Hypogonadotropic hypogona... ORPHA:251066
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Alstrom Syndrome
Kyphosis, Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulatio... OMIM:203800
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent foramen ovale, Prolonged Q... OMIM:601005
Gm1 Gangliosidosis
Kyphosis, Splenomegaly, Hepatosplenomegaly, Platyspondyly, Scoliosis, Abnormal form of the verteb... ORPHA:354
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Aplastic anemia, Arrhythmia, Hem... ORPHA:398124
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Increased circulating gonadotropin level, Kyphosis, Infertility, Lumbar hyperlordosis, Impotence,... ORPHA:2232
Mucopolysaccharidosis, Type Iva
Kyphosis, Hepatomegaly, Anterior beaking of lumbar vertebrae, Short neck, Platyspondyly, Scoliosi... OMIM:253000
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Hurler-Scheie Syndrome
Kyphosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Scoliosis, Aortic regurgitation, Pulm... OMIM:607015
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Irregular menstrua... ORPHA:370
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Adrenal hypoplasia, Bone marrow hypocellularity, Anemia, Th... OMIM:619151
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Diastrophic Dysplasia
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Cryptorchidism, Hypoplastic cervical ... ORPHA:628
Trisomy 13
Kyphosis, Atrial septal defect, Scoliosis, Ventricular septal defect, Abnormal morphology of fema... ORPHA:3378
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Atrial flutter, Atrial fibrillation, Hypogonadism, First degr... OMIM:160900
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Splenomegaly ORPHA:812
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal cardiac septum morphology, Hypoplasia of penis, Bifid scr... ORPHA:887
Amyloidosis, Familial Visceral
Hypertension, Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
15Q24 Microdeletion Syndrome
Kyphosis, Decreased response to growth hormone stimulation test, Hypospadias, Scoliosis, Cryptorc... ORPHA:94065
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Hypertension, Anem... OMIM:618886
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Diabetes mellitus, ... ORPHA:2348
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Supernumerary vertebrae, Hemivertebrae, Block verteb... OMIM:271520
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Ventricular tachycardia, ... OMIM:600649
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Sea-blue histiocytosis, Hypoplastic vertebral bodies, Hepatomegaly, ... OMIM:230600
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Abnormality of the vertebral column, Enlarged ki... OMIM:314390
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Pelger-Huet Anomaly
Kyphosis, Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormality of neutro... OMIM:169400
Metatropic Dysplasia
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Abnormal intervertebral disk morpholo... ORPHA:2635
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Mucopolysaccharidosis, Type Ivb
Kyphosis, Aortic valve stenosis, Hepatomegaly, Platyspondyly, Scoliosis, Hyperlordosis, Ovoid ver... OMIM:253010
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Thrombocytopenia, Hypothyroidism, Diabetes mellitus, Si... OMIM:222300
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
Holt-Oram Syndrome
Kyphosis, Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atriov... ORPHA:392
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatic st... OMIM:612526
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis, Anemia, Lymphadenopathy ORPHA:37748
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Ascites, Cardiomegaly, Pericardial c... OMIM:253250
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circula... OMIM:300942
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Double outlet right ventricle, Kyphosis, Atrial septal defect, Decreased resp... OMIM:618223
Babesiosis
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Myocardial infarction, Thrombocytopenia... ORPHA:108
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypert... OMIM:616589
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Weismann-Netter Syndrome
Kyphosis, Abnormality of the thyroid gland, Scoliosis, Abnormal form of the vertebral bodies, Anemia ORPHA:3344
Gracile Bone Dysplasia
Ascites, Hypoplastic spleen, Asplenia, Micropenis OMIM:602361
Hydatidiform Mole
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Platyspondyly, Scoliosis OMIM:234250
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Seckel Syndrome 7
Lumbar scoliosis, Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Iron deficiency anemia, Diffuse alveolar hemorrha... ORPHA:99931
Noonan Syndrome 14
Kyphosis, Lymphopenia, Pulmonic stenosis, Short neck, Mitral valve prolapse, Aortic regurgitation... OMIM:619745
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Schaaf-Yang Syndrome
Kyphosis, Micropenis, Scoliosis, Hypogonadism, Cryptorchidism OMIM:615547
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis, Kyphosis, Short neck, Abnormal form of the vertebral bodies ORPHA:3098
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis, Premature ovarian insufficiency OMIM:618124
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Type I diabetes mell... ORPHA:290
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy ORPHA:79312
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Abnormal left ventricular function, Scoliosis, Hyperlordosis, Dilated cardiomyopathy, V... OMIM:607155
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice OMIM:619658
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... OMIM:616860
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Cantú Syndrome
Platyspondyly, Short neck, Ovoid vertebral bodies, Cuboid-shaped vertebral bodies, Abnormal heart... ORPHA:1517
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Hurler Syndrome
Kyphosis, Hepatomegaly, Enlarged tonsils, Splenomegaly, Mitral regurgitation, Hepatosplenomegaly,... OMIM:607014
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Prostate cancer, Hepatosplenomegaly, Hepatocellular ... ORPHA:158057
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Kyphosis, Mitral regurgitation, Scoliosis, Ventricular septal ... ORPHA:261250
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Prolonged n... OMIM:616828
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Scoliosis, Spina bifida occulta, Rectovaginal fistula OMIM:617466
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Cryptorchidism, Short neck, Hypoplasia of penis ORPHA:3082
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly OMIM:619064
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Portal fibrosis, Jaundice, Acholic stools OMIM:619868
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Hemivertebrae, Ventricular septal defect, Abnormal vertebral mo... ORPHA:77298
Cowden Syndrome 5
Hydrocele testis, Kyphosis, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism, Goiter, Thy... OMIM:615108
Cowden Syndrome 1
Hydrocele testis, Kyphosis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism... OMIM:158350
Cockayne Syndrome Type 2
Kyphosis, Hepatomegaly, Scoliosis, Male hypogonadism, Cryptorchidism ORPHA:90322
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... ORPHA:432
Cowden Syndrome 6
Hydrocele testis, Kyphosis, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism, Varicocele,... OMIM:615109
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Abnormality of vertebral epiphysis morphology, Delayed puberty, Cryptorchidism ORPHA:3121
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Secundum atrial septal defect, Supernumerary nipple, Micropenis, Scoliosis, Cryptorchid... OMIM:619951
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Kennerknecht syndrome
Short neck, Thoracolumbar scoliosis, Agonadism, Hypoplasia of the uterus OMIM:600908
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Short neck, Ventricular septa... OMIM:235255
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect,... ORPHA:363705
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Srd5A3-Cdg
Kyphosis, Decreased response to growth hormone stimulation test, Hypothyroidism, Microcytic anemi... ORPHA:324737
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Marfanoid Habitus With Situs Inversus
Kyphosis, Pulmonic stenosis, Scoliosis, Situs inversus totalis, Mitral valve prolapse, Aortic reg... OMIM:609008
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Scoliosis, Cholestasis, Hematochezia, Di... OMIM:615895
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Arrhythmia, Myocarditis, Achalasia, Lymphadenopathy, Cardiomyopathy, ... ORPHA:3386
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Right ventricular hypertrophy, Hyperlordosis, Reduced left ventricular ejection ... ORPHA:268
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Jaundice ORPHA:75234
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Infertility, Precocious puberty, Atrial septal defect, External genital hypoplasia, Sma... ORPHA:398069
Metatropic Dysplasia
Kyphosis, Kyphoscoliosis, Relatively short spine, Platyspondyly, Scoliosis, Long coccyx, Anisospo... OMIM:156530
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology ORPHA:404440
Mosaic Trisomy 20
Spinal canal stenosis, Abnormal mitral valve morphology, Vertebral segmentation defect, Kyphosis,... ORPHA:1724
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Immunodeficiency 32B
Splenomegaly OMIM:226990
Lateral Meningocele Syndrome
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Ventricula... ORPHA:2789
Aredyld Syndrome
Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Scoliosis, Type I diabetes mellitus ORPHA:1133
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadeno... OMIM:609981
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Marden-Walker Syndrome
Kyphosis, Micropenis, Hypospadias, Short neck, Scoliosis, Dextrocardia, Cryptorchidism OMIM:248700
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Lateral Meningocele Syndrome
Kyphosis, Bicuspid aortic valve, Short neck, Biconcave vertebral bodies, Scoliosis, Cryptorchidis... OMIM:130720
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Abnormality of the vertebral column, Bicornuate uterus OMIM:601076
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly, Clitoral hypertrophy, Cryptorchidism, I... OMIM:614866
Triosephosphate Isomerase Deficiency
Cholelithiasis, Kyphosis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemo... OMIM:615512
Kagami-Ogata Syndrome
Kyphoscoliosis, Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Ventricular ... OMIM:608149
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Increased vertebral height, Lumbar hyperlordosis, Hepatomegaly, Splenomegaly, Thoracic kyphoscoli... OMIM:613385
Wilson Disease
Hepatomegaly, Acute hepatitis, Back pain, Splenomegaly, Cirrhosis, Abnormality of the menstrual c... ORPHA:905
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Micropenis, Reduced alpha/beta synthesis ratio, Hypospadias, Hemiverteb... OMIM:301040
Mucopolysaccharidosis Type 7
Splenomegaly, Anterior beaking of lumbar vertebrae, Short neck, Scoliosis, Anterior beaking of lo... ORPHA:584
Koolen-De Vries Syndrome
Vertebral segmentation defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Kyphosi... ORPHA:96169
Mucopolysaccharidosis, Type Ii
Kyphosis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Short neck, Abnormal heart valve morpho... OMIM:309900
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... OMIM:616278
Frank-Ter Haar Syndrome
Kyphosis, Mitral valve prolapse, Scoliosis, Beaking of vertebral bodies ORPHA:137834
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Sialuria
Hypoplastic nipples, Hepatomegaly, Scoliosis, Splenomegaly OMIM:269921
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Jaundice, Hypoparathyroidism, Adrenal insufficie... ORPHA:231226
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Weismann-Netter Syndrome
Horizontal sacrum, Kyphosis, Scoliosis OMIM:112350
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Meckel Syndrome 14
Tricuspid regurgitation, Mitral regurgitation, Single ventricle, Short neck, Ambiguous genitalia,... OMIM:619879
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Kyphosis, Ventricular escape rhythm, Back pain, Spinal rigidity, Sud... ORPHA:98855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:606612
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Kyphosis, Kyphoscoliosis, Atrial septal defect, Ri... OMIM:300967
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Harrod Syndrome
Kyphosis, Hypospadias, Cryptorchidism, Scoliosis ORPHA:2115
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Kyphosis, Scoliosis, Hypoplastic labia majora OMIM:609128
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis, Infertility OMIM:614409
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Short n... ORPHA:247768
X-Linked Emery-Dreifuss Muscular Dystrophy