Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Spinal muscular atrophy, Camptodactyly of finger, Urinary inconti... |
OMIM:604320 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Peroneal mu... |
ORPHA:98856 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Spinal muscular atrophy, Spastic tetrapare... |
OMIM:616081 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Decre... |
ORPHA:90103 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration,... |
OMIM:620011 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Cerebellar atrophy, Peripheral axonal degeneration, Incoordination,... |
OMIM:302800 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Tremor, Nasogastric tube feeding in infancy, ... |
ORPHA:90117 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Distal lower limb amyotrophy, Lower limb spasticity, Urinary incontinence, Degeneration of the la... |
OMIM:182600 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Hypoplasia of the pons, Optic atro... |
ORPHA:2254 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... |
OMIM:613954 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Cerebellar vermis hypoplasi... |
ORPHA:370968 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Urinary incontinence, Degeneration of the lateral corticospinal tr... |
OMIM:600363 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Reduced forced vital capacity, Axonal degeneration, Lacticaciduria, ... |
OMIM:618811 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast... |
OMIM:604360 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Spinal muscular atrophy, Respiratory insufficiency, Proximal am... |
OMIM:253300 |
Spastic Paraplegia 2, X-Linked |
|
Skeletal muscle atrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tracts,... |
OMIM:312920 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Degeneration of the lateral corticospinal tracts, Ba... |
OMIM:603563 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Peripheral axonal neuropathy, Respiratory insufficiency, Feeding... |
OMIM:611722 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re... |
OMIM:614436 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Feedin... |
OMIM:225753 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Re... |
OMIM:611890 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Paralysis, Cerebral atrop... |
OMIM:616286 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil... |
ORPHA:254361 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Proxima... |
OMIM:604484 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Urinary incontinence, Degeneration of the la... |
ORPHA:444099 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Abnormality of the bladde... |
ORPHA:247604 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Oral-pharyngeal dysphagia, Flexion contracture, Vocal cord paralysis, Feeding d... |
OMIM:616287 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Urinary incontinence, Abnormal pyramidal ... |
ORPHA:206448 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velo... |
OMIM:614399 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Spastic ataxia, Lower limb spasticity, Urinary incontinence, Degeneration of the lateral corticos... |
OMIM:607259 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Par... |
OMIM:605285 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Clonus, Urinary incontinence, Peroneal muscle atrophy, Degeneration of the... |
ORPHA:100989 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:214400 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Chorea, Choreoathetosis, Vesicoureteral reflux, Agenesis of corpus callosum... |
ORPHA:209905 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Neuromyelitis Optica Spectrum Disorder |
|
Functional abnormality of the bladder, Paraplegia, Respiratory failure, Peripheral demyelination,... |
ORPHA:71211 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Lower limb spasticity, Urinary incontinence, Peroneal muscle atrophy, Degeneration of the lateral... |
ORPHA:171617 |
Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Dysphagia, Myofibrillar... |
OMIM:615348 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Rigidity, Optic atrophy, Cerebral atrophy, Respiratory failure, My... |
OMIM:619057 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Tremor, Respiratory insufficiency due to muscle weakness,... |
ORPHA:2590 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Degeneration of the lateral corticospinal tracts, Ba... |
OMIM:182601 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atroph... |
ORPHA:500144 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hypoperistalsis, Abdominal ... |
OMIM:619365 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Urinary incontinence, Resp... |
OMIM:602099 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Retinal pigment epithelial mottling, Myopathy, Corticospinal tract atrophy, Rod-cone dyst... |
OMIM:551500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon con... |
OMIM:606612 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... |
OMIM:105400 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... |
OMIM:300717 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Tremor, Decreased number of large per... |
OMIM:208920 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis |
OMIM:158580 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Chorea, Loss of Purkinje cells in t... |
ORPHA:98755 |
Amyotrophic Lateral Sclerosis |
|
Nausea and vomiting, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neu... |
ORPHA:803 |
Renal Tubular Dysgenesis |
|
Anuria, Microcephaly, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hyp... |
OMIM:267430 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Hand muscle weakness, Degeneration of the lateral corticospinal tracts, Ur... |
ORPHA:320355 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Apnea, Rigidity, Cere... |
OMIM:610127 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Ataxia, Tremor, Gastrointestinal dysmotility, Cerebral atrophy, Respiratory failure, Dysphagia, W... |
OMIM:618637 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Hypospadias, Centrally nucleated skeletal muscle fibers, ... |
OMIM:300219 |
Porphyria, Acute Hepatic |
|
Abdominal colic, Paralysis, Respiratory paralysis, Vomiting, Elevated urinary delta-aminolevulini... |
OMIM:612740 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Proximal muscle weakness in upper limbs, Decreased number of peri... |
OMIM:607706 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... |
ORPHA:100999 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Acute rhabdomy... |
OMIM:604168 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia, Mu... |
OMIM:613869 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Abnormal pyramidal tract morphology, Gait ataxia, Abnormality of extrapyramidal motor function, L... |
ORPHA:356 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... |
OMIM:606071 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Machado-Joseph Disease Type 3 |
|
Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,... |
ORPHA:276244 |
Variegate Porphyria |
|
Abdominal pain, Paralysis, Porphyrinuria, Increased urinary porphobilinogen, Vomiting, Constipati... |
OMIM:176200 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Ankle clonus, Hemiparesis, Respiratory failure, Tongue fasciculations, Tetra... |
OMIM:600561 |
Familial Congenital Mirror Movements |
|
Cerebral palsy, Clumsiness, Poor fine motor coordination, Abnormal corticospinal tract morphology... |
ORPHA:238722 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, U... |
ORPHA:171612 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Feeding difficulties, Respiratory failure, Brain atrophy, Atrophy/Degene... |
OMIM:616277 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... |
ORPHA:171863 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Peripheral axonal neuropathy, Paralysis |
OMIM:613710 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Edema, Intrauterine growth retardation |
OMIM:616570 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Crackles, Tachypnea, Choreoathetosis, Cough, Oxygen desaturation on exertio... |
OMIM:610978 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Urinary incontinence, Bowel incontinence, Atrophy/Degeneration in... |
ORPHA:139399 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ba... |
ORPHA:644 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Optic disc pallor, Hydroureter, Feeding difficulties, Respiratory failure, Hype... |
OMIM:618240 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu... |
OMIM:162100 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Visceral Myopathy 1 |
|
Gastroparesis, Intestinal pseudo-obstruction, Aganglionic megacolon, Abdominal pain, Abdominal di... |
OMIM:155310 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Type 1... |
ORPHA:98905 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Poor appetite, Respiratory insufficiency due to muscle weakness, Dyspnea, Dia... |
ORPHA:352447 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Urinary incontinence, Clonus, Opisthotonus, Spastic... |
OMIM:205100 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Dysphagia |
OMIM:300857 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Peripheral axonal neuropathy, Spinal musc... |
OMIM:616867 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Ex... |
ORPHA:71277 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Lacticaciduria, Methylm... |
OMIM:245400 |
Familial Visceral Myopathy |
|
Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Abdominal distention, Aplasia/Hypopl... |
ORPHA:2604 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Respiratory distress, Ataxia, Apnea, Spastic tetraparesis, Abdominal distenti... |
ORPHA:79097 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Bowel incontinence, Truncal titubation, Gastrointestinal dysmotility, Axonal degeneration... |
ORPHA:88628 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure, Tongue fasciculations, Fasciculations, Dysphagia |
OMIM:613435 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Weakness of muscles of respi... |
ORPHA:52430 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema, Intrauterine growth retardation |
OMIM:189800 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Ground-... |
ORPHA:79126 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Urinary incontinence, Achilles tendon contracture, Babins... |
OMIM:607225 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Upper limb muscle weakness, Axonal degeneration, Lower limb muscle weakness, Foot dorsiflexor wea... |
OMIM:616155 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Flexion con... |
OMIM:616505 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic tetraparesis, Ba... |
OMIM:612319 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Proteinuria, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Chr... |
ORPHA:340 |
Adrenomyodystrophy |
|
Myopathy, Abnormality of the urinary system, Megacystis |
ORPHA:977 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Reduced vital capacity, Orthopnea, Facial palsy, Triceps weakness, Weakn... |
ORPHA:98913 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis |
ORPHA:132 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Cerebellar atrophy, Fa... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Cerebellar atrophy, Fa... |
ORPHA:276241 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Abnormal pyramidal tract morphology, Babinski sign, Spastic paraplegia, Cerebral atrophy,... |
ORPHA:83629 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Elevated ... |
OMIM:619351 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Feeding difficulties, Respiratory insuffici... |
OMIM:615330 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ... |
ORPHA:99947 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Secondary microcephaly, Myoclonus... |
OMIM:606777 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Caudate atrophy, Amyotrophic lateral sclerosis, Respiratory insufficienc... |
OMIM:617892 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Spastic tetraparesis, Lactic... |
OMIM:605711 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Feeding difficulties in i... |
ORPHA:254875 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... |
ORPHA:100993 |
Hyperekplexia 4 |
|
Flexion contracture, Cerebral atrophy, Respiratory failure, Hypertonia, Distal arthrogryposis, My... |
OMIM:618011 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m... |
OMIM:611637 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Gastroparesis, ... |
OMIM:619350 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract |
OMIM:619602 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Abdominal distention, Gastrointestinal dys... |
OMIM:613662 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Feeding difficulties in infancy, Megacystis, Constipation, Vomiting |
OMIM:125800 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal dysplasia, Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding dif... |
OMIM:614922 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171433 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Feeding difficulties in infancy, Megacystis, Constipation, Vomiting |
OMIM:304800 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Gastrojejunal tube feeding in infancy, Gastrointestinal dysmotility, Axonal deg... |
ORPHA:478029 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death, Increased... |
OMIM:619334 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... |
ORPHA:70588 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, Hy... |
ORPHA:2902 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Peripheral axonal neuropathy, S... |
ORPHA:298 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Rod-cone dystrophy, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Diaminopentanuria |
|
Ataxia, Cystinuria, Hyperlysinuria, Neurodegeneration, Spasticity |
OMIM:222350 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... |
ORPHA:95434 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Resp... |
OMIM:611067 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers, Poor appetite, Abdominal pain |
OMIM:616794 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
ORPHA:101097 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention, Renal cyst |
OMIM:174050 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou... |
ORPHA:454836 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... |
OMIM:615157 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insufficiency |
ORPHA:640 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Progressive spasticity, Ataxia, Fasciculations, Ca... |
ORPHA:496641 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Vocal cord paralysis, Tongue ... |
OMIM:211530 |
Acute Intermittent Porphyria |
|
Urinary incontinence, Tremor, Respiratory paralysis, Proximal muscle weakness in upper limbs, Abd... |
ORPHA:79276 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Abnormal brainstem MRI sign... |
ORPHA:258 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis... |
ORPHA:2241 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Charcot-Marie-Tooth Disease Type 4A |
|
Frequent falls, Hand muscle weakness, Decreased number of large peripheral myelinated nerve fiber... |
ORPHA:99948 |
Snakebite Envenomation |
|
Epistaxis, Paralysis, Diarrhea, Rhabdomyolysis, Neuromuscular dysphagia, Pseudobulbar paralysis, ... |
ORPHA:449285 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Respiratory fai... |
OMIM:620327 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion... |
ORPHA:75840 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Limb joint contracture, Flexion co... |
OMIM:618186 |
Rabies |
|
Nausea and vomiting, Cerebral palsy, Anorexia, Recurrent pharyngitis, Diarrhea, Vocal cord paresis |
ORPHA:770 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Br... |
OMIM:620233 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Hypospadias, Facial palsy, Flexion contracture, Facial diplegia, Respira... |
ORPHA:171430 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:363400 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Recurrent streptococcus pneumoniae infections, Urinary incontinence, Parkinsonism... |
ORPHA:225147 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Death in infancy, Elbow contracture, Rigidity, Abdominal distention, Feeding dif... |
OMIM:620275 |
Japanese Encephalitis |
|
Respiratory distress, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Anorexi... |
ORPHA:79139 |
Foodborne Botulism |
|
Nausea and vomiting, Cerebral palsy, Abdominal pain, Paralysis, Respiratory insufficiency due to ... |
ORPHA:228371 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... |
ORPHA:1145 |
Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:619887 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Renal insufficiency, Pneumothorax, Abnormal pyramidal sign, Renal cyst, Cereb... |
ORPHA:445038 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617672 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Feeding difficulties, S... |
OMIM:616811 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Lower limb spasticity, Resting tremor, Urinary incontinence, Corpus callosum atrophy, Hoffmann si... |
OMIM:601162 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... |
ORPHA:101112 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Myositis, Renal insufficiency, Recurrent myo... |
ORPHA:99845 |
Cerebrotendinous Xanthomatosis |
|
Abnormal lung morphology, Axonal degeneration, Abnormal pyramidal sign, Abnormal cerebellar pedun... |
ORPHA:909 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Retinal detachment, Exaggerated startle response, Hypopla... |
OMIM:253800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Tachypnea, Ce... |
OMIM:615838 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... |
ORPHA:70 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Brain atrophy, Intraut... |
OMIM:620326 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Nausea, Abdominal pain, Abdominal distention, Diarrhea, Respiratory in... |
ORPHA:100924 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ... |
OMIM:620265 |
Alg1-Cdg |
|
Cerebellar atrophy, Renal insufficiency, Abnormality of the kidney, Chronic diarrhea, Cerebral at... |
ORPHA:79327 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Pneumonia, Respiratory tract infection, Dyspnea, Oliguria, Hemiparesis, Decreased urine o... |
ORPHA:544482 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... |
ORPHA:98897 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616437 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Feeding difficultie... |
OMIM:619847 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Microcephaly, Respiratory failure, Cerebellar hypoplasia, S... |
ORPHA:168486 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress,... |
OMIM:312170 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... |
OMIM:162500 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
Farber Disease |
|
Respiratory distress, Skeletal muscle atrophy, Nodular pattern on pulmonary HRCT, Paraparesis, At... |
ORPHA:333 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Reduced forced vital capacity, Achilles ... |
OMIM:620249 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Chorea, Chore... |
ORPHA:506 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... |
OMIM:215470 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemiparesis, Anuria, Acute kidney injury, Hemolytic-uremic syndrome |
OMIM:235400 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... |
OMIM:263000 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hyperphosphaturia, Ataxia, Proteinuria, Respiratory insufficiency due to mu... |
OMIM:220110 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Vocal cord pares... |
OMIM:614895 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Cerebellar vermis hypoplasia... |
OMIM:618291 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... |
OMIM:606070 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... |
ORPHA:35689 |
Primary Effusion Lymphoma |
|
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:48686 |
Microphthalmia, Syndromic 6 |
|
Retinal dystrophy, Microcephaly, Renal hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Apl... |
OMIM:607932 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Urinary incontinence, Babinski sign, Cerebral atrophy, Axonal loss, Myoclonus, A... |
OMIM:221770 |
Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Neurogenic bladder, Orthostatic hypotension, Urinary incontinence, ... |
OMIM:263570 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Gastrostomy tube feeding in infa... |
OMIM:620278 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Myelopathy, Bradypnea, Respiratory failu... |
OMIM:617186 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Abnormal renal tubule morphology, Rhinorrhea, Oliguria, Cardiorespiratory ar... |
ORPHA:188 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Respiratory insuffi... |
ORPHA:600 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Dyspnea, Flexion contracture, Oliguria, Pulmonary infiltrates, Pulmonary fib... |
ORPHA:220393 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Flexion contra... |
ORPHA:1194 |
Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Abdominal distention, Dependency on parenteral nutrition, Bronchiect... |
OMIM:619445 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Renal insufficiency, Polyuria, Bronchiectasis, Stage 5 chronic ... |
OMIM:619468 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficien... |
OMIM:614299 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Poliomyelitis |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu... |
ORPHA:2912 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus |
ORPHA:141333 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Abdominal pain, Paralysis, Diarrhea, Paralytic ileus, Urinary rete... |
OMIM:176000 |
Athyreosis |
|
Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Respiratory failure, Abdominal pain |
ORPHA:890 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation |
ORPHA:1832 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Decreased nerve cond... |
ORPHA:309256 |
Renal Hypoplasia, Bilateral |
|
Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst,... |
ORPHA:97362 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... |
OMIM:265120 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Microphthalmia, Short stature |
ORPHA:2528 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dys... |
ORPHA:99931 |
Primary Angiitis Of The Central Nervous System |
|
Nausea and vomiting, Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema... |
ORPHA:140989 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Recurrent respiratory infect... |
ORPHA:538 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Morgagni diaphragmatic hernia, Atelectasis... |
OMIM:613177 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Flexion cont... |
OMIM:615491 |
Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Dysphagia |
OMIM:619565 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... |
ORPHA:43 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Anorexia, Lacticaciduria, Aminoaciduria, Respiratory failure |
OMIM:619386 |
Hypokalemic Periodic Paralysis |
|
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li... |
ORPHA:681 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Ataxia, Apnea, Central hypoventilation, Optic atrophy, Dysmetria, Feeding difficulties, Respirato... |
OMIM:618233 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Microcephaly, Atelectasis, Spastic paraplegia, Tracheomalacia |
ORPHA:896 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Sudden episodic apnea, Microcephaly, Rhabdomyolysis, Oliguria, Respiratory... |
ORPHA:159 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Respiratory insufficiency, Respiratory failure, Focal substantia nigra T2 ... |
OMIM:256000 |
Lead Poisoning |
|
Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, Chronic kidney disease, Poor... |
ORPHA:330015 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Gastroparesis, Abnormality of the ... |
ORPHA:85443 |
Thyroid Hemiagenesis |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95719 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Death in infancy, Death... |
ORPHA:682 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Neurodegeneration, Spastic parapa... |
OMIM:615643 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Multiple joint contractures, Facial palsy, Tremor, Babinski sign... |
OMIM:128100 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:365 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Titubation, Respira... |
ORPHA:280210 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Abdominal distention, Babinski sign, O... |
ORPHA:309263 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Myositis, Renal insufficiency, Proteinuria, Abdominal pain, Abdominal distention, Dia... |
ORPHA:93552 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Neo... |
OMIM:256300 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis, Hepatic failure |
OMIM:619431 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Stillbirth, Respiratory insufficiency |
OMIM:600972 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Axonal degeneration, Scissor gait, Babinski sign, Cerebral atrophy, Optic atrophy, Choreo... |
OMIM:278800 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Intrinsic hand muscle atrophy, Dysphagia, Abnormal posturing |
OMIM:304700 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture |
OMIM:313420 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Diarrhea, Spastic... |
ORPHA:3240 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Infantile Krabbe Disease |
|
Respiratory distress, Lower limb spasticity, Diffuse cerebral atrophy, Prolonged brainstem audito... |
ORPHA:206436 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Abdominal distenti... |
ORPHA:309271 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Feeding dif... |
OMIM:616239 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal tract hypoplasia, Spasticit... |
OMIM:307000 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Feeding difficulties in infancy, Rigid... |
OMIM:257200 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Chorea, Respiratory failure, Gastroesophageal reflux, Decreased liver function, Dysphagia... |
ORPHA:70472 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Spasticity, Opisthotonus, Abnormal posturing, Pigmentary retinopathy, Aspirati... |
ORPHA:216866 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Cerebellar atrophy, Death in infancy, Hy... |
OMIM:252010 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia |
ORPHA:438134 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Glutaric aciduria, Reye syndrome-like episodes, Rhabdo... |
ORPHA:26791 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Inhalational Botulism |
|
Nausea and vomiting, Paralysis, Dyspnea, Diarrhea, Urinary retention, Constipation |
ORPHA:254504 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle ... |
ORPHA:466768 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Microcephaly, Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Resting tremor, Renal insufficiency, Crackles, Nonproductive cough, Odynoph... |
ORPHA:319213 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Ataxia, Abdominal pain, Feeding di... |
OMIM:620166 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... |
OMIM:602088 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Tremor, Gastrointestinal dysmot... |
ORPHA:2131 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Camptodacty... |
OMIM:608104 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Spastic dip... |
OMIM:300048 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute kidney injury, Decreased urine... |
ORPHA:542323 |
Zygomycosis |
|
Sinusitis, Abnormal cranial nerve morphology, Acute infectious pneumonia, Air crescent sign, Unus... |
ORPHA:73263 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... |
ORPHA:230800 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... |
ORPHA:36238 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Res... |
OMIM:613845 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Lassa Fever |
|
Dyspnea, Miscarriage, Oliguria, Cough |
ORPHA:99824 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Reduced forced vital capacity, Vocal cord paralysis, Increa... |
OMIM:620161 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Urinary incontinence, Myelopathy, Cranial nerv... |
ORPHA:268882 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Ataxia, Facial palsy, Tachypnea, Episodic respiratory distress, Slurred spee... |
ORPHA:31826 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Glycosuria |
OMIM:606824 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention, Proteinuria, Abnormality of the kidney |
ORPHA:369 |
Small Bowel Atresia |
|
Abdominal distention, Intrauterine growth retardation, Vomiting, Feeding difficulties |
ORPHA:1201 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Recurrent respiratory infections, Protuberant abdomen, Death in infancy |
OMIM:277300 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Optic disc pallor, Death in infancy, Respiratory i... |
OMIM:615512 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616171 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Urinary incontinence, Parkinsonism, Tre... |
OMIM:146500 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Tremor, Dyspnea, Episodic abdominal pain, Respiratory failure, In... |
ORPHA:330021 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Apnea, Clonus, Microcephaly, Flexion contracture, ... |
OMIM:617301 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Incoordination, Abnormal medulla oblongata morphology, F... |
ORPHA:297 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Renal hypoplasia, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... |
ORPHA:226313 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Diarrhea, Tachypnea, Tetraplegia, Feeding difficul... |
OMIM:618278 |
Fryns Syndrome |
|
Ureteral duplication, Aganglionic megacolon, Hypospadias, Renal agenesis, Hypoplasia of the optic... |
OMIM:229850 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Parkinsonis... |
OMIM:614298 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity |
OMIM:615889 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Death in infancy, Neonatal respiratory distress, Ureteral duplication, Apnea, Re... |
OMIM:608836 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Cerebral atrophy, Feeding difficulties, Methylmalonic aciduria, Gastroesophageal reflu... |
OMIM:614857 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Respiratory failure, Degenerative vitreoretinopathy, Arthrogryposis mult... |
OMIM:607598 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Anuria, Acute kidney injury |
ORPHA:90038 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Rigidity, Cough, Cerebral atrophy, Feeding difficulties, Stridor, Bronch... |
OMIM:230900 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Optic atrophy, Respiratory insufficiency, Feeding difficulties, Respiratory f... |
OMIM:618329 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal renal morphology, Abnormal res... |
ORPHA:449280 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
Acrocephalopolydactyly |
|
Abnormal renal morphology, Protuberant abdomen |
ORPHA:221054 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abdominal distention, Flexion contracture, Aplasia o... |
ORPHA:158684 |
Cofs Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1466 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Cerebral atrophy, Respiratory failure, Vomiting, Patent urachus, Death i... |
OMIM:618252 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, P... |
OMIM:253310 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
Cat-Eye Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Paralysis |
OMIM:612300 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Abdominal distention, Generalized amyotrophy, Death in childhood, Spasticity |
OMIM:619423 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Periodic paralysis |
OMIM:614198 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Central hypoventilation, Feeding difficulties, Chronic constipation, Respiratory failure, ... |
OMIM:619483 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Elevated urinary norepinephrine level, Tremor, Cranial nerve comp... |
ORPHA:94080 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, At... |
ORPHA:79138 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:3469 |
Seckel Syndrome 2 |
|
Growth delay, Microphthalmia, Short stature, Heart murmur |
OMIM:606744 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Death in infancy, Dicarboxylic aciduria, F... |
OMIM:613070 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... |
OMIM:608647 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Renal hypoplasia, Respiratory insufficiency, Pulmonary hypoplasia, Protuberant abdom... |
OMIM:269860 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Protuberant abdomen, Pulmonary cyst, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Qazi-Markouizos Syndrome |
|
Chronic constipation, Torticollis, Abdominal distention |
ORPHA:3010 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... |
OMIM:310200 |
Joubert Syndrome 21 |
|
Ataxia, Apnea, Elongated superior cerebellar peduncle, Dyspnea, Optic atrophy, Megalopapilla, Ren... |
OMIM:615636 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction |
OMIM:193250 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph... |
ORPHA:35710 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Clonus, Tremor, Cerebral atrophy, Feeding difficulties, Hypopnea, 3-Meth... |
OMIM:617248 |
Adrenoleukodystrophy |
|
Incoordination, Urinary incontinence, Bowel incontinence, Paraparesis, Spastic paraplegia, Slurre... |
OMIM:300100 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Gastrointestinal dysmotility, Poor coordination, ... |
ORPHA:391428 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Lobar holoprosencephaly |
ORPHA:2117 |
Congenital Toxoplasmosis |
|
Microphthalmia, Ascites, Intrauterine growth retardation |
ORPHA:858 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Abdominal pain, Diarrhea, Axonal degeneration, Vomiting |
OMIM:106100 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Sinusitis, Epistaxis, Abnormal retinal vascular morphology, ... |
ORPHA:727 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... |
ORPHA:60025 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature |
OMIM:300915 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Short stature |
OMIM:610023 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:614082 |
Wilson Disease |
|
Acute hepatic failure, Tremor, Hand tremor, Aminoaciduria, Vomiting, Renal tubular dysfunction, I... |
OMIM:277900 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Renal neoplasm, Torticollis, Multiple joint contractures, Repeated pneumoth... |
ORPHA:536467 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhin... |
OMIM:244400 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Hypertonia, Neurode... |
OMIM:245200 |
2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Feeding difficulties in infancy, Abnormal brainstem MRI signal intensity, Stridor, Respiratory fa... |
ORPHA:444013 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Ataxia, Optic neuropathy, Feeding difficulties in infancy, Tremor, Dyspnea, Rha... |
OMIM:610505 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Co... |
ORPHA:255138 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Feedi... |
ORPHA:308552 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis,... |
ORPHA:79102 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Dysphagia, Abnorma... |
ORPHA:142 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Long penis, Abdominal distention, Intrauterine growth retardation |
OMIM:246200 |
Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs, Abdominal distention |
ORPHA:93299 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Abdominal distention, Stage 5 chronic kidney dise... |
ORPHA:1830 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neurodegenera... |
OMIM:300894 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:603194 |
Cholera |
|
Abnormality of renal excretion, Miscarriage, Tachypnea, Aspiration pneumonia, Acute kidney injury... |
ORPHA:173 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Torticollis, Anorexia, Abdominal distention, Spinal cord tumor, Episodic abd... |
ORPHA:370348 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Tremor, Decreased nerve conduction velocity, Vocal cord par... |
ORPHA:397744 |
Diaphanospondylodysostosis |
|
Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff... |
OMIM:608022 |
Gitelman Syndrome |
|
Ataxia, Polyuria, Abdominal pain, Renal magnesium wasting, Paralysis, Rhabdomyolysis, Enuresis, H... |
OMIM:263800 |
Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system physiology, O... |
ORPHA:90051 |
Megabladder, Congenital |
|
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:603552 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Bronchitis, Abdominal pain, Neonatal asphyxia, Diarrhea, Recurrent pneumonia, ... |
ORPHA:420741 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Acute hepatic failure, Hypoventilation, Ataxia, Aciduria, Paralysis, Tracheom... |
OMIM:203700 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:98863 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Exertional dyspnea |
ORPHA:514 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:98853 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Abdominal distention, Optic disc coloboma, Secretory diarrhea, Renal duplic... |
OMIM:270420 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Nausea and vomiting, Renal dysplasia, Urinary bladder inflammation, Abdominal... |
ORPHA:79403 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia |
OMIM:611134 |
Paramyotonia Congenita Of Von Eulenburg |
|
Neonatal inspiratory stridor, Facial muscle hypertrophy, Feeding difficulties, Dysphagia, EMG: my... |
ORPHA:684 |
Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal lung morphology, Abnormal pyramidal sign, Progressive gait ataxia, Aspir... |
ORPHA:646 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Abnormal pyramidal sign, Spastic... |
OMIM:256600 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Opisthotonus, Respiratory failure, Intrauterine growth retardation, Spasticity |
OMIM:610678 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Poor appetite, Hypocitraturia, Paralysis, Respiratory insufficiency due to mus... |
ORPHA:18 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Reduced vital capacity, Decreased distal sensory nerve a... |
ORPHA:99956 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:48431 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Respiratory failure, Muscular dys... |
OMIM:616538 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Paraganglioma of head and neck, Elevated urinary catecholamine level, ... |
ORPHA:653 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Myop... |
ORPHA:1876 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Clonus, Microcephaly, Hydrocephalus, Optic atrophy, Spastic tetr... |
OMIM:259720 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Respiratory insufficiency, Feeding difficulties, Myopathy, Respiratory failure, M... |
OMIM:609015 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Nasogastric tube feeding in infancy, Flexion contracture, Knee flexion contracture... |
ORPHA:2020 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Intrauterine gr... |
OMIM:609981 |
Mitochondrial Trifunctional Protein Deficiency |
|
Feeding difficulties in infancy, Rhabdomyolysis, Babinski sign, Poor suck, Respiratory insufficie... |
ORPHA:746 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Flexion contracture, Elbow flexion contracture, Rec... |
OMIM:214150 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... |
OMIM:615559 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Intrauterine growth retardation, Abnormality of the upper urinary tra... |
ORPHA:2145 |
Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Microcephaly, Bladder divertic... |
OMIM:219100 |
Metatropic Dysplasia |
|
Peripheral axonal neuropathy, Flexion contracture, Respiratory insufficiency, Respiratory failure... |
OMIM:156530 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Feeding difficulties in infancy, Death in infancy, Respiratory failure, Renal cyst |
OMIM:614862 |
Cap Polyposis |
|
Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation |
ORPHA:160148 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Neoplasm of the lung,... |
ORPHA:100085 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections, Eosinophilia, Cough |
ORPHA:2314 |
Boutonneuse Fever |
|
Renal insufficiency, Abdominal pain, Diarrhea, Respiratory failure, Nausea |
ORPHA:83313 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Periodic paralysis |
OMIM:170400 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... |
ORPHA:276621 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Short stature, Edema, Congestive heart failure, Umbilical hernia, Microphthalmia |
ORPHA:2505 |
Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Aganglionic megacolon, Abdominal distention, Diarrhea, Malnutrition... |
ORPHA:95427 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, Chiar... |
OMIM:270400 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo... |
ORPHA:79404 |
Mucopolysaccharidosis, Type Vii |
|
Diastasis recti, Heparan sulfate excretion in urine, Flexion contracture, Recurrent upper respira... |
OMIM:253220 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Polyminimyoclo... |
OMIM:619574 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:613155 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Chorioretinal dystrophy, Microcephaly, Dyspnea, Optic atrophy, Respiratory ... |
ORPHA:2707 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Abdominal distention, Hypercalciuria, Generalized aminoaciduria, Nephrocalcino... |
ORPHA:2088 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Ataxia, Respiratory insufficiency, Death in chil... |
OMIM:607625 |
Senior-Loken Syndrome 4 |
|
Rod-cone dystrophy, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Penoscrotal Transposition |
|
Renal dysplasia, Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transpositi... |
ORPHA:2842 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Urinary incontinence, Hydrocephalus, Respiratory failure, Hy... |
OMIM:616482 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Urinary incontinence, Feeding difficulties in infancy, Tremor, Abnormal py... |
OMIM:234200 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Short stature, Pulmonary arterial hypertension |
OMIM:300887 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Ovarian Fibroma |
|
Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:314473 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... |
OMIM:601650 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy, Feeding difficulties,... |
OMIM:610217 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture, Feeding difficulties, Macroglossia, Respiratory failure, Ca... |
ORPHA:254528 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Polyuria, Death in adolescence, Pigmentary retinopathy, Proximal tubulopathy, Myoclonus, ... |
OMIM:560000 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Asthma, Hypospadias, Diastasis recti, Protuberant abdomen |
ORPHA:457485 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Intestinal pseudo-obstruction, Heparan sulfate excretion in urine, Diarrhea, Flexion... |
OMIM:309900 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypospadias, Aganglionic megacolon, Bowel incontinence, Spina bifida... |
ORPHA:567 |
Meckel Syndrome 14 |
|
Abdominal distention, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia, Protuberant a... |
OMIM:619879 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Abdominal distention, Renal hypoplasia, Ureteral agene... |
OMIM:617666 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Recurrent respiratory infections, Proteinuria, Clonus, Death... |
ORPHA:534 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Recurrent sinopulmonary infections, Ataxia, Heparan sulfate excretion in urin... |
ORPHA:581 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hip contracture, Lower limb spasticity, Bilateral fetal pyelectasis... |
OMIM:300868 |
Castleman Disease |
|
Nausea and vomiting, Renal insufficiency, Intestinal obstruction, Abdominal pain, Abdominal diste... |
ORPHA:160 |
Listeriosis |
|
Respiratory distress, Ataxia, Pneumonia, Miscarriage, Abdominal pain, Tremor, Abnormal brainstem ... |
ORPHA:533 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute kidney injury |
ORPHA:99829 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Abdominal distention, Pulmonary lymphangiectasia, Micropenis, Hepatic failure, ... |
OMIM:235255 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:602501 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora... |
ORPHA:731 |
Classic Mycosis Fungoides |
|
Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Optic atrophy, ... |
OMIM:601152 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Spastic tetraplegia, Colpoce... |
OMIM:618651 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Short stature |
OMIM:251270 |
Schnitzler Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularizatio... |
ORPHA:891 |
Smith-Magenis Syndrome |
|
Retinal detachment, Microcephaly, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal l... |
ORPHA:819 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... |
ORPHA:567548 |
Colchicine Poisoning |
|
Respiratory distress, Renal insufficiency, Oliguria, Cardiorespiratory arrest |
ORPHA:31824 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abdominal distention, Diarrhea, Abnormal renal physiology |
ORPHA:2290 |
Arima Syndrome |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Agenesis of cerebellar vermis, Ataxia, Proteinur... |
OMIM:243910 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Ileus, Neoplasm of the lung |
ORPHA:83469 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Cardiogenic Shock |
|
Increased pulmonary capillary wedge pressure, Crackles, Dyspnea, Oliguria, Hypoxemia |
ORPHA:97292 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Hypospadias, Flexion contracture, Feeding difficulties, Dysgenesis... |
OMIM:619479 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2547 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Hypoventilation, Decreased number of peripheral myelinated nerve fibers, Decr... |
ORPHA:99949 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Agenesis of corpus callosum, Sub... |
ORPHA:2396 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... |
ORPHA:2704 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Vocal cord paralysis, Cranial nerve compres... |
ORPHA:221098 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:228390 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Hepatic failure |
ORPHA:75233 |
Sandestig-Stefanova Syndrome |
|
Primary microcephaly, Respiratory failure, Hypoplasia of the corpus callosum, Camptodactyly |
OMIM:618804 |
Pierpont Syndrome |
|
Microphthalmia, Short stature |
OMIM:602342 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:600118 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections |
ORPHA:2759 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Recurrent inf... |
ORPHA:51890 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Abdominal pain, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Le... |
ORPHA:563 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Oligohydramnios |
OMIM:619053 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Vomi... |
ORPHA:469 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polyuria, Poor... |
OMIM:615994 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Optic disc coloboma, Vomiting |
ORPHA:92050 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Periodic paralysis |
OMIM:267200 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Microcephaly, Hypoplasia of the pons, Respiratory failure, Cerebellar hypoplasia, Muscular dystro... |
ORPHA:88618 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Ataxia, Acute rhabdomyolysis, Clonus, Oral-pharyngeal dysphagia, Rhabdomyolysis, Poor ... |
OMIM:616878 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Myopathy, Vomiting, EMG: myopathic abnormalities |
ORPHA:71 |
Monosomy 18P |
|
Microphthalmia, Hypertension, Short stature, Lymphedema |
ORPHA:1598 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia, Protuberant abdomen |
OMIM:187600 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Apnea, Poor appetite, Gastrointestinal dysmoti... |
OMIM:617799 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:290 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Crackles, Rhabdomyolysis, Tachypnea, Oliguria, Hypocapnia, Acute kidney injury |
ORPHA:466650 |
Ovarian Fibrothecoma |
|
Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:314478 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr... |
ORPHA:887 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Abdominal pain, Feeding difficulties in infancy, A... |
ORPHA:3260 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... |
ORPHA:29072 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Respiratory distress, Decreased number of periphe... |
OMIM:256810 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:261272 |
Letterer-Siwe Disease |
|
Dyspnea, Abdominal distention, Pulmonary infiltrates |
OMIM:246400 |
Hurler Syndrome |
|
Recurrent respiratory infections, Heparan sulfate excretion in urine, Flexion contracture, Dermat... |
OMIM:607014 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain |
OMIM:277320 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Poor appetite, Abdominal distention, Hypercalciuria, G... |
OMIM:227810 |
Currarino Syndrome |
|
Neurogenic bladder, Recurrent urinary tract infections, Tethered cord, Urinary incontinence, Gast... |
OMIM:176450 |
Sialuria |
|
Poor fine motor coordination, Macroglossia, Protuberant abdomen, Increased level of N-acetylneura... |
OMIM:269921 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:619375 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Dyspnea, Stage 5 chronic kidney disease, Focal segmental glomer... |
OMIM:242900 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Unilateral Polymicrogyria |
|
Apnea, Involuntary movements, Epistaxis, Pulmonary arteriovenous malformation, Spastic tetraplegi... |
ORPHA:268943 |
Sandifer Syndrome |
|
Torticollis, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Abnormal po... |
ORPHA:71272 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea |
ORPHA:103910 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... |
ORPHA:3015 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation |
OMIM:300863 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Nausea and vomiting, Abnormal autonomic nervous system physiology, Paralysis |
ORPHA:83601 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Necrotizing Enterocolitis |
|
Apnea, Abdominal distention, Diarrhea, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Increased urinary O-linked sialopeptides, Axonal degeneration, Cere... |
OMIM:609242 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Pulmonary arterial hypertension, Increased level of L-... |
OMIM:215600 |
Interstitial Cystitis |
|
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... |
ORPHA:37202 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia |
OMIM:308350 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... |
ORPHA:51636 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Recurrent respiratory infections, Respiratory failure |
ORPHA:3226 |
Malignant Atrophic Papulosis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions, R... |
ORPHA:679 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Nausea and vomiting, Renal insufficiency, Gastrointestinal hemorrhage, Rec... |
ORPHA:36426 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Pseudohypoaldosteronism Type 2 |
|
Nausea and vomiting, Periodic paralysis |
ORPHA:757 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Flexion contracture, Protuberant abdomen |
OMIM:613330 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abdominal distention, Abnormal renal morphology, Pulmonary lymphangiectasia, Micropenis, Hepatic ... |
ORPHA:1655 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Renal salt wasting, Abdomina... |
ORPHA:275761 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia, Short stature |
ORPHA:3191 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Hydrolethalus |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Anencephaly |
ORPHA:2189 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Short stature, Unilateral microphthalmos |
OMIM:619318 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Periodic paralysis |
OMIM:188580 |
Aneurysm Of Sinus Of Valsalva |
|
Dyspnea, Oliguria, Cough |
ORPHA:1054 |
Gitelman Syndrome |
|
Nausea and vomiting, Respiratory distress, Proteinuria, Urinary incontinence, Decreased urinary p... |
ORPHA:358 |
Bresek Syndrome |
|
Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
ORPHA:85284 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia |
OMIM:614833 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure, Ataxia |
ORPHA:1861 |
Vici Syndrome |
|
Recurrent respiratory infections, Cerebellar vermis hypoplasia, Macular atrophy, Microcephaly, Oc... |
OMIM:242840 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Hydrocephalus |
OMIM:613153 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Cervical lymphadenopathy, Lymphadenopathy |
OMIM:614034 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, 4-hydroxyphenylacetic aciduria, Abdominal distention, 4-H... |
OMIM:617156 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly |
ORPHA:77298 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis, Constipation, Intr... |
ORPHA:73246 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea, Pulmonary edema |
ORPHA:64739 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
Thyroid Hypoplasia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95720 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Pulmonary hypoplasia |
ORPHA:85166 |
Rift Valley Fever |
|
Miscarriage, Retinitis, Paralysis, Paraparesis, Retinal hemorrhage, Macular edema, Retinal vascul... |
ORPHA:319251 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Neonatal respiratory distress, Hydroureter, Hypospadias, Diastasis r... |
OMIM:265380 |
Trisomy 13 |
|
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... |
ORPHA:3378 |
Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Ventral shortening of foreskin, Urethral diverticulum, Displacem... |
ORPHA:95706 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Dyspnea, Atelectasis, Hematuria, Cough, Abnorma... |
ORPHA:728 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Rhizomelia |
ORPHA:93267 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Microphthalmia, Heart murmur, Intrauterine growth retardation |
ORPHA:2728 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Short stature |
OMIM:614583 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia, Pulmonic stenosis |
OMIM:618914 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Mirizzi Syndrome |
|
Dark urine, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea |
ORPHA:521219 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormality of retinal pigmentation, Abnormal penis morphology, Retinal dys... |
ORPHA:2556 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Recurrent upper re... |
OMIM:620296 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Protuberant abdomen |
OMIM:617102 |
Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Congenital diaphragmatic hernia, Un... |
ORPHA:2260 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention |
OMIM:618528 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Nausea and vomiting, Renal insufficiency, Gastrointestinal hemorrhage, Res... |
ORPHA:537 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Glycogen Storage Disease Ia |
|
Decreased muscle mass, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Protuber... |
OMIM:232200 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
OMIM:212750 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding diffic... |
ORPHA:273 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly |
OMIM:147250 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Diarrhea, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, ... |
OMIM:618321 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidne... |
ORPHA:805 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Neurodegeneration |
OMIM:620210 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia, Protuberant abdomen |
OMIM:151210 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation |
ORPHA:163966 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Shigellosis |
|
Pneumonia, Anorexia, Abdominal pain, Hemolytic-uremic syndrome, Rhabdomyolysis, Urethritis, Ulcer... |
ORPHA:810 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... |
ORPHA:85194 |
Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Recurrent bronchitis, Myelopathy, Recurrent pneumonia, Death in childhood, Macro... |
OMIM:252500 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Costello Syndrome |
|
Renal insufficiency, Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Enlarged cerebe... |
OMIM:218040 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Ascites, Short stature |
OMIM:602361 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Vesicoure... |
ORPHA:2549 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Urethral atresia, Pulmonary hypoplasia, Hydronephrosis |
OMIM:271520 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Hydrocephalus, Abnormally large globe |
OMIM:615249 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Short stature |
ORPHA:2788 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Tachypnea, Abnormal pulmonary interstitial morphology, Cerebr... |
OMIM:613658 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Neurodegeneration, Dysphagia, Joint ... |
OMIM:615919 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency,... |
ORPHA:90349 |
Bloom Syndrome |
|
Recurrent urinary tract infections, Pneumonia, Poor appetite, Bronchitis, Respiratory tract infec... |
ORPHA:125 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618935 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Ataxia, Polyuria, Renal salt wasting, Enuresis, Dysdiadochokinesis, Peripheral hypomyelination, H... |
OMIM:612780 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Recurrent sinopulmonary infections, Recurrent respiratory infections, Rh... |
ORPHA:647 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Feeding difficulties in infancy, Chorea, Aplasi... |
ORPHA:565 |
Chand Syndrome |
|
Atelectasis, Hydroureter, Ataxia |
ORPHA:1401 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... |
OMIM:153400 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Intracranial hemorrhage, Hypertension, Growth delay, Microphthalmia |
OMIM:614424 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Laryngeal Abductor Paralysis |
|
Stridor, Vocal cord paralysis, Microcephaly |
OMIM:150260 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Miscarriage, Abnormality of the urethra, Vesicou... |
ORPHA:2438 |
Roifman Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Renal hypoplasia, Renal tubular dysfunction,... |
ORPHA:37553 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus |
OMIM:614219 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent urinary tract infections, Neona... |
OMIM:616268 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Gastroparesis, Optic nerve hypoplasia, Unilateral renal agenesis, Bilat... |
ORPHA:500150 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Leishmaniasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:507 |
Cerebral Visual Impairment |
|
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner... |
ORPHA:447788 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Tachycardia, Internal hemorrhage |
ORPHA:335 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia |
ORPHA:370959 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Dyspnea, Tachypnea, Hypercalciuria, Aminoaciduria |
OMIM:239200 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Ataxia, Upper motor neuron dysfunction, Babinski sign, Dysme... |
ORPHA:14 |
Williams Syndrome |
|
Hypoplasia of penis, Tremor, Dysmetria, Abnormal tubulointerstitial morphology, Nephrocalcinosis,... |
ORPHA:904 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Tricuspid regurgitation |
OMIM:618652 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Hydrocephalus |
OMIM:617244 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... |
ORPHA:95455 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Portal hypertension, Pulmonary arterial hypertension,... |
ORPHA:974 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence |
ORPHA:2795 |
Type 1 Diabetes Mellitus |
|
Polyuria |
OMIM:222100 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Epispadias, Dysp... |
ORPHA:2554 |
Dyggve-Melchior-Clausen Disease |
|
Spastic tetraparesis, Respiratory insufficiency due to muscle weakness, Recurrent upper respirato... |
ORPHA:239 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Gastrointestinal hemorrhage, Renal insufficiency, Periodic paralysis, Neph... |
OMIM:276700 |
Sézary Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... |
ORPHA:555874 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Spontaneous, recurrent epistaxis, Paralysis, Hydrocephalus, Spastic paraplegia, Abno... |
ORPHA:2072 |
African Trypanosomiasis |
|
Papilledema, Renal insufficiency, Abnormal central motor function, Miscarriage, Urinary incontine... |
ORPHA:3385 |
Baraitser-Winter Syndrome 1 |
|
Postnatal growth retardation, Microphthalmia, Aortic valve stenosis, Short stature |
OMIM:243310 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Feeding difficulties, Bladder diverticulum, Myopathy, Type 1 muscle fibe... |
OMIM:614557 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Death in infancy, Diarrhea, Vomiting, Protuberant abdomen, Hepatic failure |
OMIM:278000 |
Williams-Beuren Syndrome |
|
Feeding difficulties in infancy, Flexion contracture, Vocal cord paralysis, Nephrocalcinosis, Chi... |
OMIM:194050 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy |
OMIM:603909 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Frontotemporal c... |
ORPHA:100070 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Increased nuchal translucency, Oligohydramnios |
OMIM:618494 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Opsismodysplasia |
|
Renal phosphate wasting, Recurrent respiratory infections, Respiratory insufficiency, Protuberant... |
OMIM:258480 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Aganglionic megacolon, Optic disc hypoplasia, Renal hypoplasia/aplasia, Optic ... |
ORPHA:959 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Optic atrophy, Spastic tetraplegia, Chiari type I malformation, Neurodegenerati... |
OMIM:618476 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Galloway-Mowat Syndrome 3 |
|
Short stature, Edema, Hypertension, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:617729 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
Rere-Related Neurodevelopmental Syndrome |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
ORPHA:494344 |
Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Retinal p... |
OMIM:219800 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Upper airway obstruction |
ORPHA:93352 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:308240 |
Liver Disease, Severe Congenital |
|
Status asthmaticus, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abdominal distent... |
OMIM:619991 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
Digeorge Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Atelectasis, Asthma, Chronic pulmonary obstructio... |
OMIM:188400 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Protuberant abdomen |
OMIM:264700 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida, Cerebellar hypoplasia, Protuberant abdomen |
OMIM:616038 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Griscelli Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:381 |
Heart And Brain Malformation Syndrome |
|
Growth delay, Microphthalmia, Polyhydramnios |
OMIM:616920 |
Joubert Syndrome 37 |
|
Microphthalmia, Short stature |
OMIM:619185 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting |
OMIM:618314 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Pulmonary hypoplasia, Neonatal death, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
Fibrochondrogenesis 1 |
|
Stillbirth, Joint contracture of the hand, Protuberant abdomen, Camptodactyly |
OMIM:228520 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616395 |
Hereditary Spherocytosis |
|
Abdominal distention, Ataxia, Abdominal pain |
ORPHA:822 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1915 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Ataxia, Urethral stenosis, Cerebellar hypoplasia, Pulmonary fibrosis, Decreas... |
OMIM:613990 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Episodic abdominal pain, Neuroendocrine neoplasm, Nausea |
ORPHA:100086 |
Leprechaunism |
|
Skeletal muscle atrophy, Abdominal distention, Long penis, Hypercalciuria, Nephrocalcinosis, Seve... |
ORPHA:508 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:609053 |
Schneckenbecken Dysplasia |
|
Stillbirth, Protuberant abdomen |
OMIM:269250 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen |
OMIM:184250 |
Temtamy Syndrome |
|
Aortic regurgitation, Microphthalmia |
OMIM:218340 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Short stature |
ORPHA:1791 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom... |
OMIM:605373 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im... |
OMIM:266900 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Renal agenesis, Bronchitis, Feeding diffi... |
ORPHA:1199 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Hypospadias, Nephroblastoma, Aganglionic megacolon, Recurrent pneumonia, Ab... |
ORPHA:798 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Mucolipidosis Type Ii |
|
Hip contracture, Respiratory failure requiring assisted ventilation, Recurrent respiratory infect... |
ORPHA:576 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Bronchiectasis, Feeding difficulties, Pyelonephritis, Bladder divertic... |
ORPHA:90348 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Abnormality of the urethra |
ORPHA:752 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Neonatal respiratory distress, ... |
OMIM:194080 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency |
ORPHA:93941 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Immunodeficiency 91 And Hyperinflammation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619644 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Zttk Syndrome |
|
Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Dysplastic corpus callosum, Flexio... |
OMIM:617140 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation |
ORPHA:3412 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Short stature |
OMIM:617883 |
Primary Myelofibrosis |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis, Microcephaly |
OMIM:170390 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Recurrent respiratory infections, Renal insufficiency, Pulmonary artery dilatation, A... |
OMIM:619534 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... |
ORPHA:3342 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Retinal hemorrhage, Hypoplasia of the iris... |
OMIM:609049 |
Achondrogenesis, Type Ii |
|
Stillbirth, Protuberant abdomen |
OMIM:200610 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Recurrent pneumonia, Respiratory insufficiency, Bladder diverticulum... |
OMIM:225400 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Primary Biliary Cholangitis |
|
Abdominal distention, Orthostatic hypotension, Hepatic failure, Gastrointestinal inflammation |
ORPHA:186 |
Mosaic Trisomy 9 |
|
Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O... |
ORPHA:99776 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy |
ORPHA:97289 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos, Short stature |
ORPHA:369891 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Glycogen Storage Disease Ib |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Inflammation of the large intes... |
OMIM:232220 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
OMIM:602557 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Epistaxis, Diarrhea, Nephrolithiasis, Stage 5 chronic kidney disease, Enterocolitis,... |
ORPHA:79259 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100026 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Abdominal distention, Renal hypoplasia, Renal cyst, ... |
ORPHA:93271 |
Refsum Disease |
|
Heart block, Microphthalmia, Cardiomyopathy |
ORPHA:773 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia |
OMIM:302960 |
Warburg Micro Syndrome 4 |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
OMIM:615663 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619802 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:613451 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Diastasis recti, Interphalangeal joint contracture of finger, Pulmonary artery steno... |
ORPHA:96334 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:251230 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Growth delay |
OMIM:120200 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation |
OMIM:218700 |
Microphthalmia With Limb Anomalies |
|
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation |
OMIM:206920 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Bladder diverticulum, Intrauterine growth retardation |
ORPHA:2976 |
Marden-Walker Syndrome |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:248700 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Omenn Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:39041 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Bladder diverticulum |
OMIM:617821 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Colonic Atresia |
|
Abdominal distention |
ORPHA:1198 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
Atelosteogenesis Type Ii |
|
Elbow flexion contracture, Pulmonary hypoplasia, Protuberant abdomen, Camptodactyly, Tracheobronc... |
ORPHA:56304 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:2510 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Polyuria |
OMIM:620152 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia, Protuberant abdomen |
OMIM:200600 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Neonatal respiratory distress, Apnea, Flexion contracture, Feeding ... |
OMIM:614653 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Short stature, Polyhydramnios, Intrauterine growth retardation |
OMIM:603467 |
Vitamin D-Dependent Rickets, Type 2A |
|
Protuberant abdomen |
OMIM:277440 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Intrauterine growth retardation, Respiratory failure |
ORPHA:158687 |
Felty Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:47612 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea |
OMIM:214700 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Martsolf Syndrome 1 |
|
Short stature, Cardiac arrest, Congestive heart failure, Cardiomyopathy, Microphthalmia |
OMIM:212720 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Ureteral obstruction, Chronic diarrhea, Bladder diverticulum, Hydronephr... |
OMIM:304150 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Bladder diverticulum, Myopathy, Feeding difficulties |
ORPHA:536545 |
Thyroid Ectopia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95712 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Protuberant abdomen |
ORPHA:289157 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos, Short stature |
OMIM:610758 |
Mowat-Wilson Syndrome |
|
Hypospadias, Abnormality of the kidney, Pulmonary artery sling, Aganglionic megacolon, Abdominal ... |
OMIM:235730 |
Myhre Syndrome |
|
Ataxia, Microcephaly, Generalized muscle hypertrophy, Respiratory insufficiency, Skeletal muscle ... |
OMIM:139210 |
Cinca Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1451 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85450 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation |
ORPHA:2399 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Papillorenal Syndrome |
|
Microphthalmia, Short stature, Hypertension, Edema |
OMIM:120330 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Short stature |
OMIM:617306 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Sinusitis, Rhabdomyosarcoma, Diarrhea, Recurrent pneumonia, B... |
OMIM:251260 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Rigidity, Dyspnea... |
ORPHA:2636 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
X-Linked Acrogigantism |
|
Abdominal distention, Ataxia |
ORPHA:300373 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux, Unilateral vocal cord ... |
OMIM:617660 |
Teratoma, Pineal |
|
Hemiparesis, Polyuria |
OMIM:273120 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia |
ORPHA:899 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Hydrocephalus |
ORPHA:3301 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Recurrent respiratory infections, Duplicated collecting system, Hydroureter, Ren... |
OMIM:129900 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele, Hydrocephalus |
OMIM:613150 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Clonus, Pulmonary arteriovenous malformation, ... |
OMIM:606721 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Short stature, Congestive heart failure, Retinal hemorrhage, Pulmonar... |
ORPHA:464 |
Adult-Onset Still Disease |
|
Splenomegaly, Generalized lymphadenopathy, Bone marrow hypocellularity |
ORPHA:829 |
Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis, Periodic hypokalemic paresis, Optic nerve compression |
OMIM:259730 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Short stature, Anencephaly, Pulmonic stenosis, Microphthalmia |
OMIM:619148 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Abnormal lung lobation... |
OMIM:146510 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:613001 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Holoprosencephaly |
OMIM:612530 |
Microsporidiosis |
|
Myositis, Sinusitis, Pneumonia, Anorexia, Abdominal pain, Bronchitis, Urethritis, Chronic diarrhe... |
ORPHA:2552 |
Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614222 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy |
ORPHA:343 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Short stature, Polyhydramnios, Increased nuchal translucency, Growth delay,... |
ORPHA:1052 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Viss Syndrome |
|
Abdominal distention, Asthma, Chronic diarrhea, Pneumothorax, Dyspnea, Feeding difficulties, Macr... |
OMIM:619472 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Abdominal distention, Intrauterine growth retardation, Congenital pulmonary airway malformation, ... |
ORPHA:436252 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Abdominal distention, Hypopnea, Abdominal pain |
ORPHA:2330 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Eisenmenger Syndrome |
|
Respiratory distress, Renal insufficiency, Increased pulmonary vascular resistance, Abdominal dis... |
ORPHA:97214 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Wheezing, Abnormal lung morphology, H... |
ORPHA:2035 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... |
ORPHA:449395 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Vocal cord paralysis, Gastroesophageal ref... |
OMIM:619488 |
Trisomy 18 |
|
Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar... |
ORPHA:3380 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Pulmonic stenosis |
ORPHA:435638 |
Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly |
OMIM:606367 |
Legionnaires Disease |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:549 |
Greenberg Dysplasia |
|
Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Protuberant abdomen, Neonatal death |
OMIM:215140 |
Atelosteogenesis, Type I |
|
Neonatal death, Stillbirth, Protuberant abdomen |
OMIM:108720 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Short stature |
ORPHA:1806 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal distention, Diarrhea, Colitis, Abdominal pain |
ORPHA:309031 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia |
OMIM:234050 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Bilateral microphthalmos, Spina bifida |
ORPHA:2839 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
Galloway-Mowat Syndrome 1 |
|
Short stature, Oligohydramnios, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retar... |
OMIM:251300 |
Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:619135 |
Mixed Connective Tissue Disease |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:809 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Gastroparesis, Bladder diverticulum, Gastroesophageal reflux,... |
ORPHA:198 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Pulmonary artery stenosis, Unilateral vocal cord paralysis, Cerebral atrophy,... |
OMIM:301030 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
ORPHA:35173 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Lymphadenopathy |
OMIM:304790 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Pulmonary arterial hypertension |
OMIM:616449 |
Cranioectodermal Dysplasia 1 |
|
Recurrent respiratory infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chroni... |
OMIM:218330 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Atrophy of the spinal cord, Fetal pyelectasis, Bilateral ren... |
ORPHA:49 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly |
OMIM:618986 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:614643 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Ataxia, Tremor, Decreased nerve conduction velocity, Neurodegen... |
OMIM:214500 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture,... |
OMIM:256040 |
Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen |
ORPHA:2347 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Short stature |
OMIM:618571 |
Lig4 Syndrome |
|
Lymphadenopathy |
ORPHA:99812 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:364577 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia, Short stature, Pulmonic stenosis |
OMIM:115470 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyuria, Recurrent upper respiratory tract infections, Pleural effusion, Renal... |
OMIM:618183 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:540 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Babinski sign, Hypertonia, Neurodegeneration |
ORPHA:79244 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:615895 |
Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614225 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:610377 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Unilateral vocal cord paralysis, Optic atrophy, Feeding difficulties, Flexion contracture of the ... |
ORPHA:324540 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Vomiting, Micropenis, Intention tremor, Hypospadias, Ataxia, Abdominal pain, ... |
OMIM:619475 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Buphthalmos... |
OMIM:236670 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia, Hydrocephalus |
OMIM:608091 |
Cohen Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:193 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Short stature, Telangiectasia |
OMIM:601675 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:2714 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios |
ORPHA:2166 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Proportionate short stature, Telangiectasia, Hypertension, Pulmonary arterial hyper... |
OMIM:234100 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617591 |
Holoprosencephaly 7 |
|
Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar h... |
OMIM:610828 |
Mosaic Trisomy 1 |
|
Microphthalmia, Increased nuchal translucency, Polyhydramnios |
ORPHA:1692 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:603553 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:267700 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Pineoblastoma |
|
Papilledema, Retinoblastoma, Paralysis |
ORPHA:251909 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Elbow contracture, Spina bifida, Respiratory insufficiency, Respiratory failure, Sti... |
OMIM:304120 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Spina bifida, Hypoplasia of the iris, Umbilical hernia, Microphthalmia |
ORPHA:2092 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:300971 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Stromme Syndrome |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:243605 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria |
OMIM:613677 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Short stature |
OMIM:257850 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla... |
ORPHA:564 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphadenopathy |
ORPHA:139402 |
Acute Promyelocytic Leukemia |
|
Lymphadenopathy |
ORPHA:520 |
Atelis Syndrome 2 |
|
Microphthalmia, Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Respiratory distress, Pneumothorax, Renal hypoplasia, Respiratory fail... |
ORPHA:3404 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Pulmonary arterial hypertension |
ORPHA:65286 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Short stature |
OMIM:610651 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Holoprosencepha... |
ORPHA:2162 |
Helix Syndrome |
|
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria |
OMIM:617671 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:250989 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... |
OMIM:206900 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Pulmonic stenosis, I... |
OMIM:601186 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Bladder diverticulum, Chronic constipation, Vomiting, Gastroesophageal r... |
ORPHA:287 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Abnormal renal tubule morphology, Camptodactyly of finger, Abnormal p... |
ORPHA:2907 |
Steinfeld Syndrome |
|
Microphthalmia, Holoprosencephaly |
OMIM:184705 |
Cousin Syndrome |
|
Hydranencephaly, Microphthalmia, Hydrocephalus |
OMIM:260660 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Short stature |
ORPHA:568 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia |
OMIM:607323 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia |
OMIM:615877 |
Dyskeratosis Congenita, X-Linked |
|
Ataxia, Hypospadias, Phimosis, Urethral stenosis, Optic atrophy, Horseshoe kidney, Restrictive ve... |
OMIM:305000 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... |
ORPHA:50918 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Flexion contracture of toe, Protuberant abdomen |
OMIM:608328 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... |
OMIM:256520 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Anencephaly, Abnormal lung lobation, Agenesis of corpus callosum, Stillbirth, Severe... |
OMIM:236680 |
Pyknoachondrogenesis |
|
Abdominal distention, Muscular edema |
ORPHA:3003 |
Fryns Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2059 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Microphthalmia, Arrhy... |
OMIM:309801 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Short stature, Retinal hemorrhage |
OMIM:308300 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:227645 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Hepatosplenomegaly |
ORPHA:79124 |
Dubowitz Syndrome |
|
Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine... |
OMIM:223370 |
Jacobsen Syndrome |
|
Microphthalmia, Hydrocephalus, Macular hypoplasia, Holoprosencephaly |
OMIM:147791 |
Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy |
ORPHA:293173 |
Fanconi Anemia |
|
Short stature, Spina bifida, Aplasia/Hypoplasia of the iris, Growth delay, Intrauterine growth re... |
ORPHA:84 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Aortic valve stenosis, Short stature |
OMIM:272950 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Lymphadenopathy |
ORPHA:33226 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus |
ORPHA:268249 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Pulmonary arterial hypertension |
ORPHA:464738 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Hydrocephalus, Spina bifida |
OMIM:109400 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia |
OMIM:601812 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Short stature, Polyhydramnios, Pulmonary arterial hypertension, Microphthalmia, I... |
OMIM:620186 |
Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia, Protuberant abdomen |
ORPHA:50945 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Severe postnatal growth retardation, Pulmonary arterial hypertension, Microp... |
OMIM:620005 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Severe short stature, Rhizomelia |
ORPHA:85167 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphthalmia |
OMIM:610829 |
Cockayne Syndrome B |
|
Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Hypertension, Microph... |
OMIM:133540 |
Monosomy 9Q22.3 |
|
Microphthalmia, Umbilical hernia |
ORPHA:77301 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:602782 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly |
ORPHA:31150 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Congenital diaphragmatic hernia, Peripheral pulmonary vessel aplasia, Urethral at... |
OMIM:273395 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Protuberant abdomen, Camptodactyly, Knee flexion contracture |
OMIM:618019 |
Yunis-Varon Syndrome |
|
Short stature, Polyhydramnios, Postnatal growth retardation, Increased nuchal translucency, Bilat... |
ORPHA:3472 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microphthalmia, Rhizomelia |
OMIM:616300 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda... |
OMIM:249000 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Common Variable Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Unilateral microphthalmos |
OMIM:618874 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:601678 |
Fanconi Anemia, Complementation Group L |
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Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:614083 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia, Short stature |
OMIM:600901 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy |
OMIM:619418 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Aortic regurgitation, Short stature, Optic nerve hypoplasia, Spina bifida, Microphthalmia |
ORPHA:508498 |
Momo Syndrome |
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Bilateral microphthalmos, Short stature |
ORPHA:2563 |
Phace Association |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Poems Syndrome |
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Lymphadenopathy |
ORPHA:2905 |
2Q31.1 Microdeletion Syndrome |
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Microphthalmia, Short stature |
ORPHA:251014 |
H Syndrome |
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Lymphadenopathy, Hepatosplenomegaly |
ORPHA:168569 |
Adams-Oliver Syndrome 1 |
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Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, ... |
OMIM:100300 |
Fanconi Anemia, Complementation Group A |
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Microphthalmia, Short stature |
OMIM:227650 |
Roberts Syndrome |
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Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios |
ORPHA:3103 |
Trichothiodystrophy |
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Cardiomyopathy, Bilateral microphthalmos, Umbilical hernia, Intrauterine growth retardation |
ORPHA:33364 |
Cockayne Syndrome Type 3 |
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Mild postnatal growth retardation, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Incre... |
ORPHA:90324 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia |
OMIM:110100 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Cystocele, Pneumothorax, Renov... |
ORPHA:286 |
Q Fever |
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Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:781 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia, Severe short stature, Short stature |
OMIM:127000 |
Multiple Myeloma |
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Splenomegaly, Lymphadenopathy |
ORPHA:29073 |
Fontaine Progeroid Syndrome |
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Tricuspid regurgitation, Short stature, Pulmonary arterial hypertension, Umbilical hernia, Microp... |
OMIM:612289 |
Hallermann-Streiff Syndrome |
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Microphthalmia, Congestive heart failure, Proportionate short stature |
ORPHA:2108 |
Bartter Syndrome, Type 2, Antenatal |
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Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:241200 |
Linear Nevus Sebaceus Syndrome |
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Growth delay, Microphthalmia |
ORPHA:2612 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Ohdo Syndrome, X-Linked |
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Microphthalmia |
OMIM:300895 |
Hennekam Syndrome |
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Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy |
ORPHA:2136 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2250 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:608670 |
Acrofrontofacionasal Dysostosis 1 |
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Microphthalmia, Short stature |
OMIM:201180 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... |
ORPHA:93325 |
Rothmund-Thomson Syndrome, Type 2 |
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Microphthalmia, Short stature, Telangiectasia |
OMIM:268400 |
Monosomy 13Q14 |
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Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1587 |
Selective Igm Deficiency |
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Lymphadenitis, Lymphadenopathy |
ORPHA:331235 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615688 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Lymphadenopathy |
OMIM:607944 |
Treacher-Collins Syndrome |
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Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia |
ORPHA:1236 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Tsh-Secreting Pituitary Adenoma |
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Nausea and vomiting, Periodic hypokalemic paresis, Vomiting, Tremor |
ORPHA:91347 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616975 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Splenomegaly, Lymphadenopathy |
ORPHA:37042 |
Fanconi Anemia, Complementation Group D2 |
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Microphthalmia, Hydrocephalus |
OMIM:227646 |
Immunodeficiency 31C |
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Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Autoimmune Lymphoproliferative Syndrome |
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Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... |
ORPHA:3261 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Short stature, Phthisis bulbi, Umbilical hernia, Pulmonic stenosis, Microphthalmia,... |
OMIM:300166 |
Oculodentodigital Dysplasia |
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Microphthalmia, Arrhythmia |
OMIM:164200 |
Chromosome 13Q14 Deletion Syndrome |
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Growth delay, Microphthalmia, Umbilical hernia |
OMIM:613884 |
Aicardi Syndrome |
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Postnatal growth retardation, Microphthalmia, Spina bifida |
OMIM:304050 |
Charge Syndrome |
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Anophthalmia, Short stature, Polyhydramnios, Postnatal growth retardation, Delayed puberty, Micro... |
ORPHA:138 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Microphthalmia, Holoprosencephaly |
ORPHA:3186 |
Eec Syndrome |
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Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
Mend Syndrome |
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Microphthalmia, Aortic valve stenosis, Short stature |
ORPHA:401973 |
Chédiak-Higashi Syndrome |
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Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:167 |
Bartsocas-Papas Syndrome 1 |
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Microphthalmia, Intrauterine growth retardation |
OMIM:263650 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Hydrocephalus, True anophthalmia |
ORPHA:1106 |
Cockayne Syndrome |
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Severe short stature, Postnatal growth retardation, Retinal hemorrhage, Growth delay, Hypertensio... |
ORPHA:191 |
Microgastria-Limb Reduction Defect Syndrome |
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Growth delay, Microphthalmia, Anophthalmia |
ORPHA:2538 |
Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous retu... |
OMIM:618280 |
Holoprosencephaly 1 |
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Microphthalmia, Ethmocephaly, Alobar holoprosencephaly |
OMIM:236100 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Splenomegaly, Lymphadenopathy |
ORPHA:32960 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
Coccidioidomycosis |
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Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:228123 |
Familial Mediterranean Fever |
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Splenomegaly, Lymphadenopathy |
ORPHA:342 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo... |
ORPHA:468631 |
Aicardi Syndrome |
|
Microphthalmia, Delayed puberty |
ORPHA:50 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina, Hydrocephalus |
OMIM:253280 |
Igg4-Related Thyroid Disease |
|
Vocal cord paralysis, Dysphagia |
ORPHA:64744 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Short stature |
OMIM:259770 |
Focal Dermal Hypoplasia |
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Anophthalmia, Short stature, Myelomeningocele, Telangiectasia, Umbilical hernia, Aniridia, Microp... |
OMIM:305600 |
Ileal Neuroendocrine Tumor |
|
Lymphadenopathy |
ORPHA:100078 |
Proboscis Lateralis |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Branchial cyst, Infancy onset short-trunk short stature, Short statu... |
ORPHA:508488 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Short stature, Polyhydramnios, Intracranial hemorrhage, Growth delay, Micropht... |
OMIM:613406 |
Fraser Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal lung l... |
ORPHA:2052 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Postnatal growth retardation, Unilateral microphthalmos, Umbilical ... |
OMIM:214800 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Microphthalmia |
OMIM:617925 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Igg4-Related Submandibular Gland Disease |
|
Lymphadenopathy |
ORPHA:449432 |
Codas Syndrome |
|
Vocal cord paresis, Hypoplasia of the corpus callosum |
OMIM:600373 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Microphthalmia |
OMIM:609945 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:667 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia |
OMIM:619539 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Short stature |
OMIM:616734 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Holoprosencephaly 2 |
|
Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele, Bilateral microphthalmos |
OMIM:219000 |
Pallister-Hall Syndrome |
|
Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation |
ORPHA:672 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Brucellosis |
|
Hypersplenism, Splenomegaly, Lymphadenopathy |
ORPHA:1304 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,... |
OMIM:175780 |
Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Behçet Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:117 |
Feingold Syndrome 1 |
|
Vocal cord paralysis, Microcephaly |
OMIM:164280 |
Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:536 |
Immunodeficiency 82 With Systemic Inflammation |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619381 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Renpenning Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:309500 |
Sarcoidosis |
|
Abnormal lymph node morphology, Lymphadenopathy |
ORPHA:797 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Microphthalmia |
OMIM:612474 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion |
ORPHA:289176 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt... |
OMIM:113620 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy |
ORPHA:79078 |
Lowe Oculocerebrorenal Syndrome |
|
Postnatal growth retardation, Microphthalmia, Short stature |
OMIM:309000 |
Igg4-Related Ophthalmic Disease |
|
Lymphadenopathy |
ORPHA:449563 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Postnatal growth retardation, Frontal encephalocele, Severe intrauterine growth r... |
OMIM:268300 |
Blau Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:90340 |
Primary Sjögren Syndrome |
|
Lymphadenopathy |
ORPHA:289390 |
Crimean-Congo Hemorrhagic Fever |
|
Splenomegaly, Lymphadenopathy |
ORPHA:99827 |
Marburg Hemorrhagic Fever |
|
Lymphadenopathy |
ORPHA:99826 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty |
ORPHA:649 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Neoplasm of the thymus, Abnormal lymph node morphology |
ORPHA:99889 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Ataxia, Flexion contracture, Knee flexion contracture, ... |
OMIM:259050 |
Leptospirosis |
|
Lymphadenopathy |
ORPHA:509 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Townes-Brocks Syndrome |
|
Microphthalmia, Short stature, Delayed puberty |
ORPHA:857 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Microphthalmia |
OMIM:164210 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Short stature, Hyphema, Pulmonic stenosis, Microphthalmia, Aortic valve stenosis |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Short stature, Growth delay, Pulmonic stenosis, Microphthalmia, Aortic valve stenosis |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia, Aortic valve stenosis, Short stature, Pulmonic stenosis |
ORPHA:261537 |
Microphthalmia, Syndromic 1 |
|
Growth delay, Microphthalmia, Anophthalmia |
OMIM:309800 |