Gene: Met MGI:96969

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

met proto-oncogene

Synonyms:

HGF receptor, Par4, c-Met

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Met mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Met (6 diseases)
Human diseases predicted to be associated with Met (1322 diseases)

The table below shows human diseases associated to Met by orthology or direct annotation.

Disease	Matching phenotypes	Source
Renal Cell Carcinoma, Papillary, 1	Papillary renal cell carcinoma	OMIM:605074
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Arthrogryposis, Distal, Type 11	Talipes equinovarus, Absent proximal finger flexion creases, Metatarsus adductus, Camptodactyly, ...	OMIM:620019
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia	OMIM:607278
Deafness, Autosomal Recessive 97		OMIM:616705

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

Disease	Matching phenotypes	Source
Tongue, Pigmented Fungiform Papillae Of	Abnormality of the tongue	OMIM:275250
Myofibromatosis, Infantile, 1	Myofibromatosis, Fibroma	OMIM:228550
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ...	OMIM:611369
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma	OMIM:609265
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Squamous cell carcinoma, Verrucae	OMIM:618267
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia	OMIM:306950
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Fibromatosis, Gingival, 1	Gingival fibromatosis	OMIM:135300
Cheilitis Glandularis	Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology	ORPHA:1221
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Respiratory insufficienc...	OMIM:617232
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Enchondromatosis, Multiple, Ollier Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:166000
Lethal Congenital Contracture Syndrome 4	Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Distal arthrogry...	OMIM:614915
Fibromatosis, Gingival, With Progressive Deafness	Gingival fibromatosis	OMIM:135550
Hereditary Gingival Fibromatosis	Gingival fibromatosis	ORPHA:2024
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Desmoid Disease, Hereditary	Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma	OMIM:135290
Fibromatosis, Gingival, 5	Gingival fibromatosis	OMIM:617626
Hereditary Continuous Muscle Fiber Activity	Type 1 muscle fiber predominance, Congenital diaphragmatic hernia	ORPHA:972
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu...	OMIM:253300
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Squamous cell carcinoma, Chronic furunculosis, Perifolliculitis, Recurrent cutaneou...	OMIM:613736
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Multiple Enchondromatosis, Maffucci Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:614569
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Dermatofibrosarcoma Protuberans	Neoplasm of the skin, Fibrosarcoma	ORPHA:31112
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia	OMIM:616410
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Basal cell car...	ORPHA:50944
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300717
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617769
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Autosomal Recessive Spastic Paraplegia Type 43	Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraparesis, Knee flexion contr...	ORPHA:320370
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
N Syndrome	Leukemia, Abnormality of chromosome stability, Hypospadias, Neoplasm	OMIM:310465
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Respiratory insufficiency, Death in childhood, Spinal muscular atrophy, ...	OMIM:616081
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Xeroderma Pigmentosum Variant	Basal cell carcinoma, Melanoma, Squamous cell carcinoma	ORPHA:90342
Muscular Dystrophy, Congenital, 1B	Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a...	OMIM:604801
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Paraneoplastic Pemphigus	Thymoma, B-cell lymphoma, Sarcoma	ORPHA:63455
Schopf-Schulz-Passarge Syndrome	Poroma, Apocrine hidrocystoma, Sparse body hair, Nail dystrophy, Squamous cell carcinoma, Basal c...	OMIM:224750
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Nemaline Myopathy 8	Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp...	OMIM:615348
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia	OMIM:614100
Spinocerebellar Ataxia 31	Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia	OMIM:117210
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia	ORPHA:99811
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar atrophy	OMIM:615268
Tumor Predisposition Syndrome 2	Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve...	OMIM:619975
Acquired Ichthyosis	Sarcoma, Neoplasm, Multiple myeloma, Lymphoma	ORPHA:454
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia, Neural tube defect	OMIM:615041
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Dysdiadochokinesis	OMIM:605388
Milroy Disease	Neoplasm of the skin, Hydrocele testis, Angiosarcoma	ORPHA:79452
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Spinocerebellar Ataxia, Autosomal Recessive 24	Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617133
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Verrucae, Squamous cell carcinoma of the vulva, Recurrent sinusitis...	ORPHA:217390
Macroglossia	Macroglossia	OMIM:153630
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Foot dorsiflexor weakness, Distal amyotrophy, Paraparesis, Upper limb muscle weakness	OMIM:302802
Xeroderma Pigmentosum, Complementation Group F	Neoplasm of the skin, Deficient excision of UV-induced pyrimidine dimers in DNA, Squamous cell ca...	OMIM:278760
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl...	ORPHA:567544
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm	ORPHA:2140
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Hypertonia	OMIM:614023
Spastic Paraparesis And Deafness	Short stature, Spastic paraparesis, Tremor	OMIM:312910
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Omphalocele	OMIM:613630
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Ataxia	OMIM:619333
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Colon cancer, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymphoma...	ORPHA:158057
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Gait ataxia, Cerebellar atrophy	ORPHA:217012
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Maffucci Syndrome	Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A...	ORPHA:163634
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Death in childhood, Death in inf...	OMIM:619334
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Cowden Syndrome 7	Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Pap...	OMIM:616858
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:311895
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes...	OMIM:607641
Progressive Osseous Heteroplasia	Sarcoma, Abnormality of the parathyroid gland	ORPHA:2762
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Squamous cell carcinoma, Scarring alopecia of...	OMIM:602540
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Punctate Palmoplantar Keratoderma Type 1	Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Nail dys...	ORPHA:79501
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat...	ORPHA:726
Large Congenital Melanocytic Nevus	Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Generalized hirsutism, Sarcoma, Rhabdomyosarcoma	ORPHA:626
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Sprengel Deformity	Abnormality of the shoulder girdle musculature, Torticollis, Shoulder muscle hypoplasia	ORPHA:3181
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro...	OMIM:605724
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro...	OMIM:617006
Epidermodysplasia Verruciformis	Verrucae, Pustule, Squamous cell carcinoma, Seborrheic dermatitis, Recurrent skin infections	ORPHA:302
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph...	OMIM:613779
Ollier Disease	Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma	ORPHA:296
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Spastic Paraparesis-Deafness Syndrome	Short stature, Spastic paraparesis, Hemiplegia/hemiparesis, Ataxia	ORPHA:2815
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Increased variability in muscle fiber diameter, Nemaline bodies, Increased endomysial connective ...	OMIM:620265
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Fanconi Anemia, Complementation Group G	Leukemia, Abnormality of chromosome stability, Myelodysplasia	OMIM:614082
Liposarcoma	Sarcoma	ORPHA:69078
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Isolated Anencephaly	Congenital diaphragmatic hernia, Omphalocele	ORPHA:563609
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Actinic keratosis, Nail dystrophy, Oropharyngeal ...	OMIM:614564
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi...	ORPHA:79140
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Tetraparesis, Parkinsonism, Paraparesis, Apraxia, Extrapyramidal dyskinesia	OMIM:105550
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy	OMIM:183020
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Radial-Renal Syndrome	Chromosome breakage, Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Hand tremor, Hand muscle weakness, Incoordination, Distal lower limb amyotrophy, Distal upper lim...	OMIM:302800
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Omphalocele	ORPHA:2141
Pancreatic Cancer, Susceptibility To, 5	Pancreatic adenocarcinoma, Melanoma	OMIM:618680
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm	OMIM:601163
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Distal amyotrophy, Progressive spastic paraparesis, Foot dorsiflexor weakness, Spinal muscular at...	ORPHA:496756
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Paraparesis, Tremor, Skeletal muscle hypertrophy	ORPHA:99014
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents	OMIM:616435
Fanconi Anemia, Complementation Group P	Horseshoe kidney, Pelvic kidney, Chromosomal breakage induced by crosslinking agents, Squamous ce...	OMIM:613951
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Tumor Predisposition Syndrome 1	Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena...	OMIM:614327
Hereditary Butyrylcholinesterase Deficiency	Abnormality of the liver, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Facial diplegia, Neonatal death,...	OMIM:611890
Frontotemporal Dementia With Motor Neuron Disease	Generalized amyotrophy, Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor functio...	ORPHA:275872
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb fasciculations...	OMIM:615157
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Necrobiosis Lipoidica	Squamous cell carcinoma	ORPHA:542592
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:613954
Infantile Myofibromatosis	Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, Fi...	ORPHA:2591
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia	OMIM:604432
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Tet...	ORPHA:506353
Palmoplantar Carcinoma, Multiple Self-Healing	Squamous cell carcinoma, Nail dystrophy, Carcinoma	OMIM:615225
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,...	ORPHA:220460
Digital Extensor Muscle Aplasia-Polyneuropathy	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2926
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Fanconi Anemia, Complementation Group O	Hydronephrosis, Chromosome breakage, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Glomerulonephritis	OMIM:247800
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma	OMIM:278750
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia	OMIM:615524
Werner Syndrome	Neoplasm of the oral cavity, Premature graying of hair, White forelock, Melanoma, Renal neoplasm,...	ORPHA:902
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory insufficienc...	OMIM:614399
Placental Insufficiency	Small placenta, Intrauterine growth retardation, Abnormal placenta morphology, Abnormal umbilical...	ORPHA:439167
Basal Cell Nevus Syndrome 2	Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma	OMIM:620343
X-Linked Charcot-Marie-Tooth Disease Type 3	Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Hand muscle weak...	ORPHA:101077
Acrocallosal Syndrome	Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:36
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Multinodular goiter, Squamous cell carcinoma	OMIM:618373
Desmoid Tumor	Neoplasm of the skin, Intestinal polyposis, Hydronephrosis, Abnormality of the upper urinary trac...	ORPHA:873
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria	OMIM:617770
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr...	OMIM:611067
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Huriez Syndrome	Squamous cell carcinoma of the skin, Nail dystrophy	OMIM:181600
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Leg muscle stiffness, Myoclonus, Tremor, Rigidity, Babinski sign,...	OMIM:606693
Lethal Congenital Contracture Syndrome 8	Distal amyotrophy, Facial diplegia, Death in infancy, Neonatal death, Distal arthrogryposis, Voca...	OMIM:616287
Myelopathy, Htlv-1-Associated	Spastic paraparesis, Abnormal pyramidal sign	OMIM:159580
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Limb muscle weakness, Respiratory failure, Hand muscle atrophy	OMIM:600561
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia, Umbilical hernia	ORPHA:380
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis	OMIM:314000
Spastic Ataxia 4, Autosomal Recessive	Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax...	OMIM:613672
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Gait ataxia, Ataxia	ORPHA:98769
Autosomal Dominant Spastic Paraplegia Type 73	Progressive spastic paraplegia, Progressive spastic paraparesis, Distal lower limb amyotrophy, Di...	ORPHA:444099
Poirier-Bienvenu Neurodevelopmental Syndrome	Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth	OMIM:618732
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Autosomal Recessive Spastic Paraplegia Type 25	Spastic paraplegia, Paraparesis	ORPHA:101005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc...	OMIM:606612
Spinocerebellar Ataxia 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In...	OMIM:616053
Intermediate Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, EMG:...	ORPHA:171433
Meige Disease	Angiosarcoma	ORPHA:90186
Lethal Congenital Contracture Syndrome 1	Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Skeletal muscle atrophy	OMIM:253310
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnorm...	ORPHA:3032
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Glossoptosis, Cleft palate	ORPHA:3104
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...	ORPHA:79665
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Respiratory insufficiency, Reduced muscle fiber alpha dystrogly...	ORPHA:370968
Mast Syndrome	Spastic paraplegia, Spastic paraparesis, Lower limb muscle weakness, Incoordination, Babinski sig...	OMIM:248900
Desmoplastic Small Round Cell Tumor	Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm of the lung, N...	ORPHA:83469
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Neonatal respiratory distress, Skeletal muscle at...	OMIM:616867
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis	ORPHA:231445
Exostoses, Multiple, Type Ii	Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma	OMIM:133701
Exostoses, Multiple, Type I	Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma	OMIM:133700
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Upper limb muscle weakness, Lower limb muscle weakness, Abnormal peripheral action potential ampl...	ORPHA:90117
Nemaline Myopathy 10	Nemaline bodies, Skeletal muscle atrophy, Congenital contracture, Death in infancy, Neonatal deat...	OMIM:616165
Lipodystrophy, Partial, Acquired, Susceptibility To	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:608709
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si...	ORPHA:254343
Auriculocondylar Syndrome 4	Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
Immunodeficiency 54	Chromosome breakage, Lymphoproliferative disorder	OMIM:609981
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Horseshoe kidney, Medulloblastoma, Nephroblastoma, Acute myeloid leuke...	OMIM:610832
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Weakness of facial musculature	OMIM:618637
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Elevated circu...	OMIM:245400
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Recurrent Respiratory Papillomatosis	Squamous cell carcinoma	ORPHA:60032
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Ovarian Fibrothecoma	Abnormality of the ovary, Diffuse leiomyomatosis, Hirsutism, Ovarian fibroma, Fibrosarcoma	ORPHA:314478
Spinocerebellar Ataxia 4	Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia	OMIM:600223
Burning Mouth Syndrome	Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure, Ragged-red muscle fibers	OMIM:616794
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct...	OMIM:604320
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	ORPHA:75840
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Pleuropulmonary Blastoma	Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma	OMIM:601200
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Spinal muscular atrophy, Weakness o...	ORPHA:254875
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Knee flexion contracture, Tongue atrophy, Lower limb amy...	ORPHA:496689
Schisis Association	Congenital diaphragmatic hernia, Omphalocele	ORPHA:63862
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity...	OMIM:607483
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Thymoma	Rheumatoid arthritis, Neoplasm of head and neck, Neoplasm of the thyroid gland, Neoplasm of the g...	ORPHA:99867
Rhabdoid Tumor	Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system	ORPHA:69077
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Calf muscle hypoplasia, Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal lower lim...	ORPHA:90103
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia	ORPHA:1166
Spastic Paraplegia 48, Autosomal Recessive	Spastic paraplegia, Spastic paraparesis, Lower limb muscle weakness, Dysmetria, Parkinsonism, Low...	OMIM:613647
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Median cleft upper lip, Agenesis of the diaphragm, Stillbirth, P...	OMIM:236680
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Cebalid Syndrome	Congenital diaphragmatic hernia, Polymicrogyria	OMIM:618774
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre...	ORPHA:145
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Glossoptosis	OMIM:614876
Fanconi Anemia, Complementation Group S	Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma	OMIM:617883
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido...	ORPHA:98905
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia	OMIM:300887
46,Xx Sex Reversal 5	Aplasia of the left hemidiaphragm	OMIM:618901
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Decreased fumarate hydratase...	OMIM:150800
Spastic Paraplegia 20, Autosomal Recessive	Spastic paraplegia, Distal amyotrophy, Spastic paraparesis, Clinodactyly, Lower limb muscle weakn...	OMIM:275900
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end...	OMIM:620249
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Myoclonus, Clumsiness, Paraparesis, Lower limb spasticity, Ataxia, Bradykinesia, Hypo...	OMIM:617854
Congenital Macroglossia	Neurofibroma	ORPHA:2430
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebellar ...	ORPHA:101112
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Crescentic glomerulonephritis, Mesangial hypercellularity, Arthritis	OMIM:616414
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Respiratory failure, Lower limb muscle weakness, Respirat...	ORPHA:2590
Facioscapulohumeral Muscular Dystrophy 1	Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoul...	OMIM:158900
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Hepatic Veno-Occlusive Disease	Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Respiratory failure	ORPHA:890
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia	OMIM:166300
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia	ORPHA:2143
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents	OMIM:609054
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hodgkin lymphoma, Glomerulonephritis, Thyroiditis	OMIM:619375
Multiple Endocrine Neoplasia, Type Iv	Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Carcinoid tumor, Parathyroid aden...	OMIM:610755
Primary Angiitis Of The Central Nervous System	Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia	ORPHA:140989
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:616730
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage, Keratitis, Squamous cell carcinoma of th...	OMIM:278740
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Respiratory insufficiency, Type ...	OMIM:605355
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Papillon-Lefèvre Syndrome	Neoplasm of the skin, Periodontitis, Pustule, Melanoma, Chronic furunculosis, Squamous cell carci...	ORPHA:678
Epilepsy, Progressive Myoclonic, 9	Generalized amyotrophy, Microglossia, Simplified gyral pattern	OMIM:616540
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Impaired distal p...	OMIM:617633
Spinocerebellar Ataxia Type 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Intention tremor	ORPHA:423275
Yellow Nail Syndrome	Nephropathy, Biliary tract neoplasm, Neoplasm, Rhinitis, Sinusitis, Renal neoplasm, Sarcoma, Bron...	ORPHA:662
8P23.1 Duplication Syndrome	Hydronephrosis, Exostoses	ORPHA:251076
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Immunodeficiency 95	Respiratory failure	OMIM:619773
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy	ORPHA:247604
Hereditary Motor And Sensory Neuropathy, Type Iic	Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr...	OMIM:606071
Hyperekplexia 4	Camptodactyly, Flexion contracture, Respiratory failure, Distal arthrogryposis	OMIM:618011
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Choreoathetosis, Ataxia	ORPHA:67047
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Distal amyotrophy, Lower limb muscle weakness, Myoclonus, Dysmet...	OMIM:614487
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent urinary tract infections, Recurrent otitis media, Stage 5 chronic kidney disease, Recur...	OMIM:615559
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Narrow mouth, Hip contracture, High palate, High, narrow palate, Small pla...	OMIM:208150
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Respiratory failure, ...	ORPHA:2254
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Omphalocele	ORPHA:95706
Birt-Hogg-Dube Syndrome 1	Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple lipomas, Large intestinal p...	OMIM:135150
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Combined Oxidative Phosphorylation Deficiency 51	Intrauterine growth retardation, Neonatal respiratory distress, Optic atrophy, Respiratory failure	OMIM:619057
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia	OMIM:619699
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Myasthenic Syndrome, Congenital, 10	Proximal amyotrophy, Tongue atrophy, Distal amyotrophy, Weakness of facial musculature	OMIM:254300
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Renal agenesis, Leukemia, Horseshoe ki...	OMIM:227650
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Pachygyria, Hepatic steatosis, Myopathy, Neonatal death, Death in child...	OMIM:614922
Familial Multinodular Goiter	Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi...	ORPHA:276399
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Renal agenesis, Leukemia, Horseshoe ki...	OMIM:600901
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration, Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:2063
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the musculature, Hydranencephaly, Polymicrogyria, Intrauterine growth retardation, ...	OMIM:225790
Serkal Syndrome	Congenital diaphragmatic hernia	ORPHA:139466
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage, Keratitis, Cutaneous melanoma, Squamous ...	OMIM:278720
Rhabdomyosarcoma, Embryonal, 2	Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal...	OMIM:180295
Sprengel Deformity	Neck muscle hypoplasia, Shoulder muscle hypoplasia	OMIM:184400
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Spinocerebellar Ataxia 26	Truncal ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:609306
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small intestine, Gastrointestinal str...	ORPHA:44890
Disabling Pansclerotic Morphea Of Childhood	Squamous cell carcinoma of the skin	OMIM:620443
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Squamous cell carcinoma, Nail dystrophy	OMIM:226600
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Ataxia, Truncal ataxia	OMIM:614229
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Squamous cell carcinoma, Absent pub...	OMIM:148210
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Malar rash, Squamous cell car...	OMIM:210900
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability	OMIM:600546
Spondylometaphyseal Dysplasia, X-Linked	Knee flexion contracture, Respiratory failure, Hip contracture, Respiratory insufficiency	OMIM:313420
Trichothiodystrophy 1, Photosensitive	Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, Squamous cell...	OMIM:601675
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man...	OMIM:614669
Combined Oxidative Phosphorylation Deficiency 4	Polymicrogyria, Intrauterine growth retardation, Death in infancy, Hepatomegaly, Respiratory failure	OMIM:610678
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm	OMIM:618238
X-Linked Adrenoleukodystrophy	Leg muscle stiffness, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, P...	ORPHA:43
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Cooper-Jabs Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Camptodactyly of finger	ORPHA:1488
Adrenoleukodystrophy	Spastic paraplegia, Lower limb muscle weakness, Incoordination, Limb ataxia, Paraparesis, Truncal...	OMIM:300100
X-Linked Intellectual Disability, Seemanova Type	Hypoplasia of the musculature, Skeletal muscle atrophy	ORPHA:85323
Chromomycosis	Multiple cutaneous malignancies, Squamous cell carcinoma, Keratoconjunctivitis sicca, Keratitis	ORPHA:182
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small placenta, Intrauterine growth retardation, Delayed eruption of teeth, Severe intrauterine g...	ORPHA:73272
Thanatophoric Dysplasia, Glasgow Variant	Micromelia, Neonatal death	OMIM:273680
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma	OMIM:180200
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Umbilical hernia	ORPHA:284180
Silver-Russell Syndrome Due To A Point Mutation	Small placenta, Intrauterine growth retardation, Oligohydramnios, Cleft palate	ORPHA:397590
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Amyotrophic lateral sclerosis, C...	ORPHA:52430
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Spastic Paraplegia 75, Autosomal Recessive	Spasticity, Spastic paraparesis, Distal lower limb amyotrophy, Dysmetria, Babinski sign, Abnormal...	OMIM:616680
Neurofibromatosis, Type Iii, Mixed Central And Peripheral	Bilateral vestibular schwannoma, Meningioma, Palmar neurofibroma, Paraspinal neurofibroma, Lisch ...	OMIM:162260
Coffin-Siris Syndrome 3	Macroglossia, Umbilical hernia, Inguinal hernia, Central diaphragmatic hernia	OMIM:614608
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Transcobalamin Deficiency	Acute kidney injury, Abnormality of chromosome stability, Methylmalonic aciduria	ORPHA:859
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Cleft palate	ORPHA:141152
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Craniofrontonasal Dysplasia	Congenital diaphragmatic hernia, Camptodactyly of finger	ORPHA:1520
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Respiratory insufficiency, Polymicrogyria, Intrauterine growth retardation, Arthro...	OMIM:615330
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Oncogenic Osteomalacia	Renal phosphate wasting, Neurofibroma, Neoplasm of head and neck, Hyperphosphaturia, Neoplasm of ...	ORPHA:352540
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Distal amyotrophy, Spastic paraparesis, Lower limb muscle weakness, Myoclonus, Dysmet...	ORPHA:313772
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Death in infanc...	OMIM:619386
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia	OMIM:300978
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Distal amyotrophy, Amyotrophic lateral sclerosis, Respira...	OMIM:602099
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Choreoathetosis, Tetraparesis	ORPHA:27
Craniorachischisis	Congenital diaphragmatic hernia, Omphalocele	ORPHA:63260
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:370079
Gillessen-Kaesbach-Nishimura Syndrome	Flexion contracture, Congenital diaphragmatic hernia, Omphalocele	OMIM:263210
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Respiratory insufficiency due...	ORPHA:352447
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Squamous cell carcinoma of the skin, Nail dystrophy, Cryptorchidism, M...	OMIM:620365
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Respiratory failure, Stillbirth	OMIM:276950
Spinocerebellar Ataxia 44	Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Dysdiadochokinesis	OMIM:617691
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block, Abnormal motor neuron morphology	DECIPHER:31
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Polyhydramnios, Large placenta, Diastasis recti, Umbilical hernia	ORPHA:254534
Aicardi Syndrome	Sparse lateral eyebrow, Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Ca...	OMIM:304050
Congenital Myopathy 22B, Severe Fetal	Hypoplasia of the musculature, Dental crowding, Shoulder flexion contracture, Elbow flexion contr...	OMIM:620369
Autoinflammatory-Pancytopenia Syndrome	Proteinuria, Chilblains, Membranoproliferative glomerulonephritis, Intestinal inflammation	OMIM:619858
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Neurodegeneration With Brain Iron Accumulation 6	Distal amyotrophy, Spastic paraparesis, Rigidity, Bradykinesia, Spastic tetraplegia	OMIM:615643
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c...	OMIM:616415
Tuberous Sclerosis 2	Chordoma, Adenoma sebaceum, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangi...	OMIM:613254
X-Linked Charcot-Marie-Tooth Disease Type 2	Clasp-knife sign, Spastic paraparesis, Hand tremor, Hand muscle weakness, Tibialis anterior muscl...	ORPHA:101076
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Renal insufficiency, Mesangi...	ORPHA:91139
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatic steatosis, Myopathy, Cirrhosis, Hepatomegaly, Respiratory failure	ORPHA:363400
Lung Cancer	Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma	OMIM:211980
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Congenital diaphragmatic hernia	OMIM:606164
Jansen-De Vries Syndrome	Central diaphragmatic hernia	OMIM:617450
Hsd10 Disease	Spastic paraparesis, Postnatal growth retardation, Myoclonus, Tremor, Rigidity, Ataxia, Choreoath...	ORPHA:391417
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Intrauterine growth retardation, Death in infancy, Hepatomegaly, Flexion...	ORPHA:1194
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Fanconi Anemia, Complementation Group U	Chromosome breakage, Ectopic kidney	OMIM:617247
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Malar rash, Increased susceptibility to spontaneous sister chromatid exchange	OMIM:618097
Oculocutaneous Albinism Type 1B	Albinism, Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma, Hypopigmentation o...	ORPHA:79434
Fragile X Syndrome	Folate-dependent fragile site at Xq28, Sinusitis, Chronic otitis media, Otitis media	ORPHA:908
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atr...	OMIM:620285
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm	ORPHA:2847
Triosephosphate Isomerase Deficiency	Cholelithiasis, Skeletal muscle atrophy, Respiratory insufficiency, Cholecystitis, Splenomegaly, ...	OMIM:615512
Fanconi Anemia, Complementation Group C	Deficient excision of UV-induced pyrimidine dimers in DNA, Renal agenesis, Leukemia, Horseshoe ki...	OMIM:227645
13Q12.3 Microdeletion Syndrome	Camptodactyly, Congenital diaphragmatic hernia	ORPHA:412035
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Mismatch Repair Cancer Syndrome 1	Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ...	OMIM:276300
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Increased endomysial con...	OMIM:620278
Neurofibromatosis, Familial Spinal	Neurofibroma, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Lisch nodules, S...	OMIM:162210
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Spastic paraparesis...	ORPHA:3208
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Fibrosarcoma, Osteosarcoma, Histiocytoma	OMIM:112250
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Lethal Osteosclerotic Bone Dysplasia	Intrauterine growth retardation, Respiratory failure	ORPHA:1832
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo...	OMIM:614376
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Foot dorsiflexor weakness, Tongue atrophy, Upper limb muscle weakness, Lower limb muscle weakness	OMIM:616155
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia...	OMIM:181405
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Fibrosarcoma,...	ORPHA:33001
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent u...	ORPHA:79404
Kid Syndrome	Neoplasm of the skin, Trichilemmoma, Folliculitis, Posterior blepharitis, Acne inversa, Keratitis...	ORPHA:477
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Death in infancy	OMIM:616277
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Neonatal d...	OMIM:618186
Carey-Fineman-Ziter Syndrome 1	Hypoplasia of the musculature, Microglossia, Skeletal muscle atrophy, Pectoralis hypoplasia, Myop...	OMIM:254940
Catel-Manzke Syndrome	Oral synechia, Glossoptosis, Cleft palate	ORPHA:1388
Hartnup Disorder	Glossitis	OMIM:234500
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Intrauterine growth retardation, Large placenta, Diastasis recti, Open mouth, E...	ORPHA:254528
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Exocrine pancreatic ins...	ORPHA:456312
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia	ORPHA:250999
Leigh Syndrome, Nuclear	Respiratory insufficiency, Optic atrophy, Respiratory failure, Hepatocellular necrosis	OMIM:256000
Dyskeratosis Congenita, X-Linked	Horseshoe kidney, Phimosis, Oropharyngeal squamous cell carcinoma, Hodgkin lymphoma, Squamous cel...	OMIM:305000
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Abnormal renal morphology, Chromosomal...	OMIM:609053
Autoimmune Hepatitis	Inflammation of the large intestine, Sclerosing cholangitis, Glomerulonephritis, Arthritis, Hepat...	ORPHA:2137
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure	OMIM:607598
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Severe Congenital Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Abno...	ORPHA:171430
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Scleri...	ORPHA:93126
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Annular pancreas, Premature graying of hair, Cryptorchidism, Nail dystr...	OMIM:268400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency due to muscle wea...	OMIM:618291
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Colonic eosinophilia	OMIM:618999
15Q24 Microdeletion Syndrome	Hernia, Congenital diaphragmatic hernia	ORPHA:94065
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Hamstring contractures, Knee flexion contracture, Achilles tendon contracture...	OMIM:310200
Seckel Syndrome 9	Congenital diaphragmatic hernia, Simplified gyral pattern	OMIM:616777
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Thoracoabdominal Syndrome	Ventral hernia, Congenital diaphragmatic hernia, Omphalocele	OMIM:313850
Fanconi Anemia, Complementation Group R	Pelvic kidney, Chromosomal breakage induced by crosslinking agents	OMIM:617244
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l...	ORPHA:803
Congenital Myopathy 21 With Early Respiratory Failure	Intrauterine growth retardation, Respiratory failure, EMG: myopathic abnormalities	OMIM:620326
Rothmund-Thomson Syndrome Type 1	Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Alopecia totalis, Sparse or absent eyela...	ORPHA:221008
Fanconi Anemia, Complementation Group D2	Deficient excision of UV-induced pyrimidine dimers in DNA, Renal agenesis, Leukemia, Horseshoe ki...	OMIM:227646
Ataxia-Telangiectasia-Like Disorder 2	Congenital diaphragmatic hernia, Joint contracture	OMIM:615919
Cardiomyopathy, Dilated, 2H	Cardiorespiratory arrest, Neonatal death	OMIM:620203
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Eczematoid dermatitis, Pustule, Keratoconjunctivitis, Squamous cell c...	ORPHA:2907
Amyotrophic Lateral Sclerosis 4, Juvenile	Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl...	OMIM:602433
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Polymicrogyria	ORPHA:1647
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov...	OMIM:614350
Dominant Beta-Thalassemia	Abnormality of the dentition, Hypoplasia of the musculature, Hepatic fibrosis, Hepatosplenomegaly...	ORPHA:231226
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Respiratory insufficiency, Neonatal death	OMIM:601612
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:616437
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Paget Disease Of Bone 2, Early-Onset	Tetraparesis, Femoral bowing, Osteosclerosis of the ulna, Bowing of the long bones, Paraparesis, ...	OMIM:602080
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Respiratory insufficiency, Death in infancy, Hepatomegaly, Respiratory failure	OMIM:614299
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn...	OMIM:619644
Rothmund-Thomson Syndrome Type 2	Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Alopecia totalis, Sparse or ab...	ORPHA:221016
Whistling Face Syndrome, Recessive Form	Whistling appearance, Microglossia, Shoulder flexion contracture, Long philtrum, Elbow flexion co...	OMIM:277720
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Cardiorespirato...	ORPHA:26791
Autosomal Recessive Spondylocostal Dysostosis	Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Camptodactyly of finger	ORPHA:2311
Donnai-Barrow Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Diaphragmatic eventration	OMIM:222448
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Leukodystrophy, Hypomyelinating, 3	Spastic paraparesis, Appendicular spasticity, Death in infancy, Abnormal pyramidal sign, Joint co...	OMIM:260600
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia	ORPHA:1915
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia	ORPHA:1120
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t...	ORPHA:79408
Fanconi Anemia, Complementation Group V	Chromosomal breakage induced by crosslinking agents	OMIM:617243
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Rothmund-Thomson Syndrome	Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Sparse eyebrow, Alopecia totalis, Sparse...	ORPHA:2909
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma, Hypertrichosis	OMIM:619750
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating hepatic transaminase concentration, Respiratory insufficiency, Cholestasis, ...	OMIM:609015
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Spastic paraparesis, Interosseus muscle atrophy, Distal lower limb amyotrophy, Distal lower limb ...	OMIM:500013
Ataxia-Telangiectasia	Abnormality of chromosome stability, Neoplasm	ORPHA:100
Image Syndrome	Hydronephrosis, Hypospadias	ORPHA:85173
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Poliomyelitis	Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu...	ORPHA:2912
Frontometaphyseal Dysplasia 1	Ankle flexion contracture, Hypoplasia of the musculature, Dental malocclusion, Delayed eruption o...	OMIM:305620
Joubert Syndrome 18

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