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Gene: Gnptab MGI:3643902

Gene Summary

Name:

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

Synonyms:

EG432486

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
small heart	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal spleen morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
no spontaneous movement	Gnptab^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal ovary morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta size	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal uterus morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
small stomach	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta vasculature	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal vitreous body morphology	Gnptab^em1(IMPC)Mbp	HET	Early adult	7.12×10^-05
abnormal blood vessel morphology	Gnptab^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal placenta morphology	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal skin morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
small kidney	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal kidney morphology	Gnptab^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal stomach morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged heart	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
preweaning lethality, incomplete penetrance	Gnptab^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal kidney morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal lymph node morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged kidney	Gnptab^em1(IMPC)Mbp	HET	Early adult	0.00
no spontaneous movement	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
enlarged ovary	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged lymph nodes	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
cataract	Gnptab^em1(IMPC)Mbp	HET	Early adult	7.52×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Gross Morphology Embryo E18.5

Images

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Gnptab 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 Gnptab (4 diseases)
Human diseases predicted to be associated with Gnptab (2970 diseases)

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

Disease	Matching phenotypes	Source
Mucolipidosis Type Iii Alpha/Beta	Joint stiffness, Kyphoscoliosis, Generalized osteoporosis, Flexion contracture, Osteolysis	ORPHA:423461
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Retinopathy, Retinal degeneration	OMIM:252600
Mucolipidosis Ii Alpha/Beta	Megalocornea, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Opacification of t...	OMIM:252500
Mucolipidosis Type Ii	Flat face, Limitation of joint mobility, Limited wrist movement, Decreased movement range in inte...	ORPHA:576

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

Disease	Matching phenotypes	Source
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Lactate Dehydrogenase B Deficiency	Reduced circulating lactate dehydrogenase concentration	OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency	Glyoxalase deficiency	OMIM:614033
Alcohol Sensitivity, Acute	Reduced acetaldehyde dehydrogenase level	OMIM:610251
Acatalasemia	Reduced circulating catalase activity	OMIM:614097
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Medial Condensing Osteitis Of The Clavicle	Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio...	ORPHA:57196
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic...	ORPHA:970
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals...	OMIM:277950
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615269
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Mental deterioration, Distal sensory impairment, Loss of ambulation, Cognitive impairment, Ataxia...	OMIM:208920
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u...	ORPHA:3416
Extensor Tendons Of Finger Anomalies	Osteoporosis, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Spinocerebellar Ataxia Type 43	Distal upper limb muscle weakness, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Cogwheel ...	ORPHA:497764
Peroxisome Biogenesis Disorder 8B	Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl...	OMIM:614877
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis	OMIM:228600
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Cerebral atrophy...	OMIM:617672
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture	OMIM:174810
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Ollier Disease	Platyspondyly, Abnormal cartilage morphology, Joint stiffness, Anemia, Multiple enchondromatosis,...	ORPHA:296
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S...	ORPHA:53697
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Vocal cord paresis, Proximal muscle weakness in lower limbs, Peripheral demyelination, Distal sen...	ORPHA:101097
Isolated Glycerol Kinase Deficiency	Osteoporosis, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration	ORPHA:408
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteoporosis, ...	ORPHA:100024
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Dis...	OMIM:302800
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger, Osteolysis	ORPHA:2776
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Temporal cortical atrophy, Tetraparesis, Shoulder girdle muscle weakness, Lumbar hyperlordosis, L...	OMIM:167320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Delayed CNS my...	OMIM:619742
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility	ORPHA:2787
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Muscle weakness, Hyp...	OMIM:618276
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Juvenile Hyaline Fibromatosis	Joint stiffness, Progressive flexion contractures, Osteolysis, Abnormal diaphysis morphology	ORPHA:2028
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Difficulty walking, Peri...	OMIM:614895
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Abnormality of the dentition, Pigmentary retinopathy, Neonatal hyperbilirubinemia, Decreased resp...	ORPHA:3363
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Abnormal trabecular bone morpholo...	ORPHA:79106
Spinocerebellar Ataxia Type 25	Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Abno...	ORPHA:101111
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Decreased testicular size, Chorea, Peripheral demyelination, Peripheral hypomye...	OMIM:604168
Metaphyseal Chondrodysplasia, Spahr Type	Scoliosis, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bone...	ORPHA:2501
Osteoporosis	Osteoporosis	OMIM:166710
Adult Krabbe Disease	Mental deterioration, Spasticity, Broad-based gait, Lower limb muscle weakness, Tetraparesis, Per...	ORPHA:206448
Pyle Disease	Platyspondyly, Genu valgum, Limited elbow extension, Metaphyseal widening, Thin bony cortex, Meta...	OMIM:265900
Hypertrophic Neuropathy Of Dejerine-Sottas	Tongue fasciculations, Broad-based gait, Hypertrophic nerve changes, Peripheral demyelination, My...	OMIM:145900
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Inherited Creutzfeldt-Jakob Disease	Abnormal pyramidal sign, Neuronal loss in central nervous system, Bradykinesia, Slurred speech, P...	ORPHA:282166
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Lower limb muscle weakness, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetrapa...	ORPHA:225154
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,...	ORPHA:73
Autosomal Recessive Spastic Paraplegia Type 46	Broad-based gait, Difficulty walking, Head tremor, Peripheral axonal neuropathy, Abnormal pyramid...	ORPHA:320391
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Osteomalacia, Abnorm...	ORPHA:93160
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615271
Spastic Paraplegia 32, Autosomal Recessive	Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Cerebral atrophy, Difficulty ...	OMIM:611252
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Bardet-Biedl Syndrome 4	Abnormality of the dentition, Hypogonadism, Obesity, External genital hypoplasia, Cryptorchidism,...	OMIM:615982
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor, Distal ...	ORPHA:423296
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Joint h...	OMIM:614727
Spastic Paraplegia 46, Autosomal Recessive	Mental deterioration, Lower limb muscle weakness, Impaired vibration sensation in the lower limbs...	OMIM:614409
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno...	ORPHA:2869
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic cervical vert...	ORPHA:2635
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Osteolysis	ORPHA:158014
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Spasticity, Cerebellar atrophy, Cerebral atrophy, Proximal muscle weakness, Babinski sign, Periph...	OMIM:619090
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Spasticity, Mental deterioration, Limb muscle weakness, Foot dorsiflexor weakness,...	OMIM:609260
Marinesco-Sjogren Syndrome	Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive muscle weakness, Ataxia, Sh...	OMIM:248800
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia, Spasticity, Memory impairment, Cerebral atrophy, Dementia, Confus...	ORPHA:204
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Difficulty walking, Cerebellar vermis atrophy, Limb ataxia, Cognitive impairment, Truncal ataxia,...	ORPHA:363432
Autosomal Spastic Paraplegia Type 30	Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s...	ORPHA:101010
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Cryptorchidism, Re...	OMIM:275400
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Slender long bone, Abnormal blood phosphate concentration, Bo...	OMIM:619795
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Memory impairment, Lateral ventricle dilatation, Cerebral atrophy, Dementia, Abnormal...	OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness...	OMIM:616155
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia	OMIM:610947
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe...	OMIM:615268
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal limb bone morphology, Abnormal cortical bone morphology,...	ORPHA:2204
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Optic atrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsiflexor weakness, Pe...	ORPHA:496756
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Distal sensor...	OMIM:214400
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Tongue atrophy, Basal lamina onion bulb formation, Upper limb muscle weakn...	OMIM:601596
Flynn-Aird Syndrome	Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Increa...	OMIM:136300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Craniofacial osteosclerosis, Abnormal epiphysis morphology, Osteom...	ORPHA:324964
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, Gait ataxia, Myoclonu...	OMIM:607317
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Spinocerebellar Ataxia, Autosomal Recessive 16	External ophthalmoplegia, Spasticity, Cerebellar atrophy, Hypogonadism, Limb ataxia, Tremor, Ankl...	OMIM:615768
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge...	OMIM:617974
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Distal upper limb muscle weakness, Scoliosis, Impaired pain sensation, Lower limb muscle weakness...	OMIM:607684
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:171622
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Hypertrophic nerve changes, Gait ataxia, Action tremor, Distal sensor...	OMIM:180800
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Distal upper limb muscle weakness, Impaired pain sensation, Difficu...	ORPHA:99953
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Kyphosis, Abnormality of the epiphysis of the ...	ORPHA:2114
Spastic Paraplegia 7, Autosomal Recessive	Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Degeneration of the ...	OMIM:607259
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelination, Distal sensor...	OMIM:618279
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla...	OMIM:208230
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Lower limb spasticity, Hypertonia, At...	OMIM:613925
Subacute Inflammatory Demyelinating Polyneuropathy	Symmetric peripheral demyelination, Somatic sensory dysfunction, Difficulty walking, Peripheral d...	ORPHA:206594
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
Nescav Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cerebellar ve...	OMIM:614255
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Autosomal Recessive Spastic Paraplegia Type 35	Mental deterioration, Difficulty walking, Neck muscle weakness, Peripheral demyelination, Ophthal...	ORPHA:171629
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Peripheral demyelination, Limb muscle weakness, Foot dorsiflexor weak...	OMIM:118200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Sensory axonal neuropathy, Cerebral atrophy, Hypogonadism, Limb muscle weakness, Proximal muscle ...	OMIM:609286
Myopathy And Diabetes Mellitus	Impaired vibratory sensation, Tip-toe gait, Weakness of orbicularis oculi muscle, Shoulder girdle...	ORPHA:2596
Osteosarcoma	Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog...	ORPHA:668
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Spasticity, Cerebellar atrophy, Cerebral atrophy, Dystonia, Gait disturbance, Short stature, Spas...	OMIM:620515
Charcot-Marie-Tooth Disease Type 2B1	Proximal muscle weakness in lower limbs, Distal upper limb muscle weakness, Sensory axonal neurop...	ORPHA:98856
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Hemiplegia, Confusion, Tremor, Hemiparesis, Ataxia	OMIM:141500
Hyperleucine-Isoleucinemia	Failure to thrive, Retinal degeneration	OMIM:238340
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mob...	ORPHA:93351
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Mental deterioration, Cerebellar atrophy, Confusion, Myoclonus, Gait a...	OMIM:615362
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy	OMIM:605388
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo...	OMIM:617225
Ck Syndrome	Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, Hyperlordosis,...	OMIM:300831
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Cognitive impairment, Motor deterioration, Ataxia, Unsteady gait, Poor fine motor coo...	ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Limb muscle weakness, Dysmetri...	OMIM:618387
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c...	OMIM:610185
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Cerebellar atrophy, Mental deterioration, Ataxia	OMIM:614706
Autosomal Spastic Paraplegia Type 58	Spasticity, Peripheral demyelination, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticolli...	ORPHA:397946
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Spasticity, Difficulty walking, Impaired tactile sensation, Abnormal pyramidal sign, Demyelinatin...	ORPHA:98
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Macular scar, Drusen	OMIM:615439
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Broad-based gait, Lower limb muscle weakness, Difficulty walking, Positive Romberg sign, Loss of ...	OMIM:616479
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Generalized dystonia, Inability to walk, Cerebellar vermis atrophy, Periphera...	OMIM:619389
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno...	ORPHA:166277
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met...	ORPHA:2774
Progressive Non-Fluent Aphasia	Mental deterioration, Temporal cortical atrophy, Frontotemporal cerebral atrophy, Memory impairme...	ORPHA:100070
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Distal upper limb muscle weakness, Impaired pain sensation, Periphe...	OMIM:615185
Spastic Paraplegia 55, Autosomal Recessive	Spastic paraplegia, Optic atrophy, Lower limb muscle weakness, Difficulty walking, Foot dorsiflex...	OMIM:615035
Frank-Ter Haar Syndrome	Kyphosis, Camptodactyly of finger, Joint stiffness, Abnormal metacarpal morphology, Beaking of ve...	ORPHA:137834
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Ethanolaminosis	Cardiomegaly	OMIM:227150
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Axonal degeneration/reg...	OMIM:606483
Spinocerebellar Ataxia Type 5	Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech	ORPHA:98766
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impai...	OMIM:118220
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Cerebral cortical atrophy, Memory impairment, Astrocytosis, Myoclonus, Rigidity, Babinski sign, G...	OMIM:600795
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Upper limb muscle weakness, Lower limb muscle weakness, Peripheral demyelination, Limb muscle wea...	OMIM:608340
Developmental And Epileptic Encephalopathy 76	Cerebellar atrophy, Cerebral atrophy, Inability to walk, Lower limb spasticity, Delayed CNS myeli...	OMIM:618468
Null Syndrome	Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability...	ORPHA:280234
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Osteopenia, Platyspondyly, Fractures of the long bones, Wide humerus, Metap...	ORPHA:319195
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe...	OMIM:602080
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Sensory axonal neuropathy, Hypoplasia of the pons, Motor axonal neuropathy, Decreased number of p...	OMIM:620542
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tongue atrophy, Tip-toe gait, Lower limb muscle weakness, Generalized musc...	OMIM:620285
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Tip-toe gait, Fasciculations, Foot dorsiflexor weakness, Distal sensory impairment, Axonal degene...	OMIM:614436
Dermatoosteolysis, Kirghizian Type	Abnormal diaphysis morphology, Brachydactyly, Osteoarthritis, Tarsal synostosis, Scoliosis, Abnor...	ORPHA:1657
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Atroph...	OMIM:617862
Spinocerebellar Ataxia 17	Broad-based gait, Positive Romberg sign, Parkinsonism, Neuronal loss in central nervous system, A...	OMIM:607136
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Neurodegeneration, Bab...	OMIM:615889
Cone-Rod Dystrophy 7	Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy	OMIM:603649
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis, Cone-shaped epiphysis	ORPHA:71267
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased...	OMIM:259450
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Optic atrophy, Spasticity, Cerebellar atrophy, Foot dorsiflexor weakness, Peripheral axonal neuro...	OMIM:617207
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Proximal...	OMIM:617087
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Mental deterioration, Difficulty walking, Impaired vibration sensation in the lower limbs, Loss o...	ORPHA:137898
Leukodystrophy, Hypomyelinating, 21	Optic atrophy, Mental deterioration, Cerebellar atrophy, Tetraparesis, Cryptorchidism, Hypogonado...	OMIM:619310
Autosomal Recessive Spastic Paraplegia Type 74	Optic atrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking, Distal low...	ORPHA:468661
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617133
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal upper limb muscle weakness, Difficulty walking, Distal sensory impairment, Peripheral hypo...	OMIM:605285
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Neck muscle weakn...	OMIM:613908
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Distal sensory impairment, Proximal muscle weakness, Decreased numbe...	OMIM:604484
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Involuntary movements, Cerebral cortical atrophy, Sensory axonal neuropathy, Muscl...	OMIM:271245
Gm1 Gangliosidosis	Spasticity, Aspiration pneumonia, Hepatosplenomegaly, Abnormal scrotum morphology, Cognitive impa...	ORPHA:354
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Spasticity, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ...	ORPHA:284332
Spinocerebellar Ataxia 31	Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia	OMIM:117210
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Charcot-Marie-Tooth Disease, Type 4H	Upper limb muscle weakness, Distal sensory impairment, Peripheral hypomyelination, Distal lower l...	OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Upper limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment, Proximal muscle...	OMIM:605588
Adenocarcinoma Of The Esophagus	Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Lymphadenopathy	ORPHA:99976
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo...	ORPHA:98762
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617769
Hall-Riggs Syndrome	Platyspondyly, Brachydactyly, Metaphyseal dysplasia, Osteoporosis, Scoliosis, Kyphosis, Irregular...	OMIM:234250
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia	OMIM:611694
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, External ophthalmoplegia, Optic atrophy, Cerebellar atrophy, Mental deteriora...	OMIM:612319
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f...	OMIM:606482
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropa...	OMIM:615957
Odontochondrodysplasia 1	Platyspondyly, Metaphyseal cupping, Biconvex vertebral bodies, Irregular epiphyses, Cone-shaped e...	OMIM:184260
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Bilateral ptosis, Difficulty walking, Delay...	ORPHA:330050
Epilepsy, Progressive Myoclonic, 8	Progressive neurologic deterioration, Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, M...	OMIM:616230
X-Linked Progressive Cerebellar Ataxia	Scoliosis, Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Foot dorsiflexor ...	ORPHA:1175
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment, Decreased number of p...	OMIM:118210
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, C...	ORPHA:2386
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Inability to walk, Cerebellar atrophy, Ataxia	OMIM:619333
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Osteoporosis, Scoliosis, Joint hypermobility	OMIM:616033
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis, Coxa valga, Finger clinodactyly	ORPHA:2958
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Drusen, Retinal dystrophy	OMIM:267800
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Mental deterioration, Peripheral demyelination, Gait ataxia, Loss of ambulation, Babinski sign, C...	OMIM:249900
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys...	ORPHA:93284
Prieto Syndrome	Osteoporosis, Clinodactyly, Coxa valga, Radial deviation of finger	OMIM:309610
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Spastic tetraparesis, Scoliosis, Cerebellar atrophy, Brain atrophy	OMIM:618741
Familial Hyperprolactinemia	Osteoporosis, Osteopenia	ORPHA:397685
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Pathologic fracture, Abnormal long bone morphology, Increased susceptibility to fractures, Elevat...	ORPHA:52430
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Keratoderma Hereditarium Mutilans	Osteolysis	ORPHA:494
Spastic Paraplegia Type 7	Optic atrophy, Cerebral cortical atrophy, Memory impairment, Cerebellar atrophy, Somatic sensory ...	ORPHA:99013
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi...	OMIM:614322
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Paresthesia, Positive Romberg sign, Gait ataxia, Distal sensory impai...	OMIM:601098
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
Amyotrophic Lateral Sclerosis 3	Dementia, Cerebellar atrophy, Lower limb muscle weakness	OMIM:606640
Macular Dystrophy, Retinal, 1, North Carolina Type	Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy	OMIM:136550
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Neck muscle weakness, Limb ataxia...	ORPHA:276193
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Truncal ataxia, Optic atrophy, Cerebral atrophy, Cerebellar atrophy	OMIM:611726
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Abnormality of the dentition, Retinal degeneration	OMIM:251700
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li...	OMIM:607706
Mast Syndrome	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weakness, Cerebral...	OMIM:248900
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Maffucci Syndrome	Recurrent fractures, Multiple enchondromatosis, Scoliosis, Osteolysis	ORPHA:163634
Galactosemia Ii	Galactosuria, Cataract	OMIM:230200
Spinocerebellar Ataxia 18	Sensory axonal neuropathy, Cerebellar atrophy, Limb muscle weakness, Tremor, Dysmetria, Progressi...	OMIM:607458
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Epiphyseal Chondrodysplasia, Miura Type	Epiphyseal dysplasia, Osteopenia, Fifth finger distal phalanx clinodactyly, Broad hallux, Long ha...	OMIM:615923
Bardet-Biedl Syndrome 18	Cataract, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Somatic sensory dysfunction, Peripheral demyelination, Limb muscle weakness, Axonal degeneration/...	OMIM:620378
Spastic Paraplegia 30, Autosomal Dominant	Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Urinary bladder sphincter dys...	OMIM:610357
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Cognitive im...	OMIM:615157
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hepatic failure, Cerebellar atrophy, Myoclonus, Tremor, Loss ...	OMIM:607426
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Foot dorsiflexor weakness, Distal sensory impairment, Decreased number of peripheral myelinated n...	OMIM:607731
Cach Syndrome	Spasticity, Lateral ventricle dilatation, Hepatosplenomegaly, Hemiparesis, Cognitive impairment, ...	ORPHA:135
Fatty Acyl-Coa Reductase 1 Deficiency	Highly arched eyebrow, Depressed nasal bridge, Cerebellar atrophy, Inability to walk, Ptosis, Sho...	ORPHA:438178
Macular Dystrophy, Patterned, 3	Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy	OMIM:617111
Chronic Inflammatory Demyelinating Polyneuropathy	Falls, Spontaneous pain sensation, Somatic sensory dysfunction, Difficulty walking, Peripheral de...	ORPHA:2932
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Optic atrophy, Elevated gamma-glutamyltransferase level, Cerebellar atrophy, Inability to walk, A...	OMIM:618324
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ...	ORPHA:2097
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, ...	OMIM:600143
Ramon Syndrome	Osteolysis	ORPHA:3019
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Decrease...	OMIM:607677
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia	OMIM:610951
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Gait disturbance, Cleft palate, Ataxia, Progressive neurologic deterioration,...	ORPHA:85317
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Reduced bone mineral density, Recurrent fractures	ORPHA:2410
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ...	ORPHA:1486
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Decreased phosphoribosylpyrophosphate synthetase level, Distal sensory impairment,...	OMIM:311070
Neuropathy, Congenital Hypomyelinating, 2	Inability to walk, Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinat...	OMIM:618184
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Urinary incontinence, Cerebral cortical atrophy, Mental deterioration, Tip-to...	OMIM:604360
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Cluste...	OMIM:607734
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Mitochondrial Dna Depletion Syndrome 18	Tongue fasciculations, Falls, Foot dorsiflexor weakness, Proximal muscle weakness, Axonal degener...	OMIM:618811
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Abnormal shoulder morphology, Localized osteoporosis, Abnormal hip ...	ORPHA:66627
Spastic Ataxia, Charlevoix-Saguenay Type	Spasticity, Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, Distal s...	OMIM:270550
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Peripheral demyelination, Kyphoscoliosis, Ataxia, Axonal loss, Dystonia	OMIM:616684
Autosomal Recessive Progressive External Ophthalmoplegia	External ophthalmoplegia, Shuffling gait, Optic atrophy, Sensory axonal neuropathy, Cerebellar at...	ORPHA:254886
Sodium-Dependent Multivitamin Transporter Deficiency	Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral palsy, Cerebral atrophy, Poor he...	OMIM:618973
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weakness, Myoclonus, Dysme...	OMIM:614487
Epilepsy, Progressive Myoclonic 7	Mental deterioration, Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616187
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Fasciculations, Postural tremor, Proximal muscle weakness, Loss of...	OMIM:608627
Amyotrophy, Hereditary Neuralgic	Depressed nasal bridge, Long nasal bridge, Upslanted palpebral fissure, Axonal degeneration, Epic...	OMIM:162100
Gordon Holmes Syndrome	Ataxia, Cerebellar atrophy, Cerebral atrophy, Chorea, Hypogonadotropic hypogonadism, Oligomenorrh...	OMIM:212840
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Cataract	OMIM:165300
Arts Syndrome	Optic atrophy, Recurrent upper respiratory tract infections, Spinal cord posterior columns myelin...	OMIM:301835
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Bruck Syndrome	Platyspondyly, Arthrogryposis multiplex congenita, Joint stiffness, Recurrent fractures, Bowing o...	ORPHA:2771
Leukodystrophy, Hypomyelinating, 17	Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Inability to walk, Anteverted nares, Kyphos...	OMIM:618006
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Subretinal fluid	OMIM:153700
Autosomal Recessive Ataxia, Beauce Type	Spasticity, Lower limb muscle weakness, Ataxia, Urinary incontinence, Impaired vibratory sensatio...	ORPHA:88644
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Charcot-Marie-Tooth Disease, Type 4B2	Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Decreased number of per...	OMIM:604563
Congenital Disorder Of Glycosylation, Type Iiz	Poor head control, Clonus, Diffuse cerebellar atrophy, Appendicular spasticity	OMIM:620201
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Limb muscle weakness, Parkinsonism, Primary amenorrhea, Premature ovarian insuffi...	OMIM:157640
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Sandhoff Disease, Juvenile Form	Acroparesthesia, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Incoordination, Abnormalit...	ORPHA:309162
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Cerebellar atrophy, Optic atrophy, Gait ataxia, Slurred speech	OMIM:619323
De Sanctis-Cacchione Syndrome	Mental deterioration, Spasticity, Leukodystrophy, Ataxia, Choreoathetosis, Global brain atrophy, ...	OMIM:278800
Stargardt Disease 3	Macular atrophy, Macular dystrophy, Macular flecks	OMIM:600110
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Depressed nasal bridge, Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait imbalance...	ORPHA:488635
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Urinary incontinence, Cerebellar atrophy, Lower limb muscle weakness, Urinary...	OMIM:607565
Spinocerebellar Ataxia 14	Mental deterioration, Memory impairment, Cerebellar atrophy, Gait ataxia, Dysmetria, Attention de...	OMIM:605361
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal...	OMIM:619902
Infantile Myofibromatosis	Limitation of joint mobility, Abnormal metaphysis morphology, Bone cyst, Hypercalcemia, Osteolysis	ORPHA:2591
Multiple Sulfatase Deficiency	Spasticity, Cerebellar atrophy, Rapid neurologic deterioration, Cerebral atrophy, Peripheral demy...	OMIM:272200
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Spinocerebellar Ataxia 12	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto...	OMIM:604326
Dystonia 23	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto...	OMIM:614860
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Oculopharyngodistal Myopathy	High, narrow palate, Vocal cord paresis, Proximal muscle weakness in upper limbs, Ophthalmoparesi...	ORPHA:98897
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metaphysi...	ORPHA:2370
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Prominent nose, Intr...	OMIM:616171
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Flattened epiphysis, Advanced ossific...	OMIM:251450
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Gait imbalance, Myoclonus, Proximal muscle weakness, Ataxia, Dementia, Unstea...	OMIM:301020
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving tarsal...	ORPHA:371428
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My...	OMIM:256731
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615267
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Cerebellar atrophy, Bulbous nose, Anteverted nares, Gait ataxia, Myoclonus, Dysmet...	OMIM:616505
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Distal sensory impairment, Peripheral axonal neuropathy, Decreased number of large peripheral mye...	OMIM:608673
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Kyphoscoliosis, Thin bony cortex, Cal...	OMIM:176920
Osteogenesis Imperfecta, Type Xii	Hypermobility of interphalangeal joints, Hyperextensibility of the finger joints, Bowing of the a...	OMIM:613849
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Osteomyelitis, Abscess, Splenomegaly, Neutrophilia, Elevated circulating...	OMIM:612852
Desminopathy	Spinal rigidity, Difficulty walking, Axial muscle weakness, Loss of ambulation, Distal lower limb...	ORPHA:98909
Charcot-Marie-Tooth Disease, Type 4B3	Upper limb muscle weakness, Lower limb muscle weakness, Brain atrophy, Distal sensory impairment,...	OMIM:615284
Mycetoma	Abnormal form of the vertebral bodies, Abnormal forearm bone morphology, Painless fractures due t...	ORPHA:2583
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Spinocerebellar Ataxia Type 2	Ophthalmoparesis, Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fascicula...	ORPHA:98756
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Clumsiness, Increased neuronal autofl...	OMIM:610003
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o...	OMIM:610743
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Axonal degenera...	OMIM:618138
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis, Scoliosis, Kyphosis	OMIM:618234
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Spasticity, Leukodystrophy, Pseudobulbar paralysis, Abnormal cerebellum morphology, Babinski sign...	OMIM:169500
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony...	OMIM:619638
Morm Syndrome	Micropenis, Cataract, Retinal atrophy, Abnormality of the kidney	ORPHA:75858
Behavioral Variant Of Frontotemporal Dementia	Mental deterioration, Frontotemporal cerebral atrophy, Memory impairment, Fasciculations, Astrocy...	ORPHA:275864
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Distal sensory impair...	OMIM:607250
Spastic Paraplegia 18B, Autosomal Recessive	Spastic paraplegia, Lower limb muscle weakness, Inability to walk, Ankle clonus, Babinski sign, L...	OMIM:611225
Juvenile Paget Disease	Coarse metaphyseal trabecularization, Cranial hyperostosis, Hyperuricemia, Bowing of the long bon...	ORPHA:2801
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Femoral bowing, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:126550
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract, Renal tubular dysfunction	ORPHA:1380
Aggressive Systemic Mastocytosis	Pathologic fracture, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopenia, ...	ORPHA:98850
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Abnormality of the dentition, Subretinal deposits, Macular degeneration, Choriocapillaris atrophy	OMIM:601553
Retinitis Pigmentosa 31	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:609923
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Thi...	OMIM:616127
Immunodeficiency 104	Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia	OMIM:608971
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Progressive psychomotor deterioration, C...	ORPHA:1170
Trichomegaly	Cataract	OMIM:190330
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Hypo...	OMIM:600081
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Ophthalmoparesis, Recurrent pneumonia, Bilateral ptosis, Difficulty walking, Generalized muscle w...	ORPHA:254875
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin...	ORPHA:521406
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation, Steppage gait, Foot dorsiflexor weakness, Distal sensory impairment	OMIM:616039
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady...	OMIM:302500
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d...	ORPHA:363710
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis	ORPHA:85193
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor	OMIM:618876
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Foot dorsiflexor weakness, Distal sensory impairment, Axonal degenerati...	OMIM:607736
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent...	OMIM:614831
Cone-Rod Dystrophy 22	Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b...	OMIM:619531
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Mental deterioration, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal p...	OMIM:617145
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Osteolysis	OMIM:176670
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cerebral cortical atrophy, Kyphosis, Chorea, Paresthesia, Intrauterine growth retardation, Dysmet...	ORPHA:48431
Bardet-Biedl Syndrome 16	Hypogonadism, External genital hypoplasia, Obesity, Retinal degeneration, Rod-cone dystrophy	OMIM:615993
Cataract 47	Cataract, Microcornea, Glycosuria	OMIM:612018
Gaucher Disease Type 1	Elevated circulating CCL18 level, Osteopenia, Splenic infarction, Erlenmeyer flask deformity of t...	ORPHA:77259
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis, Elevated transferrin saturation, Abnormality of iron homeostasis, Increased circula...	ORPHA:79230
Paraparetic Variant Of Guillain-Barré Syndrome	Sciatica, Peripheral demyelination, Recurrent acute respiratory tract infection, Peripheral axona...	ORPHA:231445
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Opitz Gbbb Syndrome	Bifid scrotum, Abnormal heart morphology, Ankyloglossia, Vesicoureteral reflux, Cryptorchidism, P...	ORPHA:2745
Spastic Paraplegia 85, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Optic atrophy, Cerebella...	OMIM:619686
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si...	ORPHA:909
Macular Degeneration, Early-Onset	Choroidal neovascularization, Macular degeneration	OMIM:616118
Nathalie Syndrome	Cataract	ORPHA:2663
Geroderma Osteodysplastica	Platyspondyly, Abnormal epiphysis morphology, Abnormal form of the vertebral bodies, Recurrent fr...	ORPHA:2078
Fibrous Dysplasia Of Bone	Scoliosis, Rickets, Osteomalacia, Cortical irregularity, Abnormal tibia morphology, Abnormal morp...	ORPHA:249
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypoplasia of the pons, Difficulty walking, Speech apraxia, Head tremor, Ophthalmoplegia, Iridocy...	ORPHA:412057
Rothmund-Thomson Syndrome, Type 1	Osteoporosis	OMIM:618625
Neuromyelitis Optica Spectrum Disorder	Myelitis, Functional abnormality of the bladder, Somatic sensory dysfunction, Paraplegia, Periphe...	ORPHA:71211
4H Leukodystrophy	Optic atrophy, Mental deterioration, Cerebellar atrophy, Decreased response to growth hormone sti...	ORPHA:289494
2,4-Dienoyl-Coa Reductase Deficiency	Optic atrophy, Spasticity, Hyperlysinuria, Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, ...	OMIM:616034
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bowing of the arm, Joint hypermobility, Coxa vara, Osteoporosis, Scoliosis, Recurr...	OMIM:619131
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Broad-based gait, Recurrent urinary tract infections, Impaired vibration sensation...	OMIM:609033
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ...	OMIM:300423
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp...	ORPHA:2788
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Osteolysis, Splenomegaly	ORPHA:391
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in lower limbs, Difficulty walking, Neck muscle weakness, Motor axonal n...	ORPHA:466768
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Intenti...	OMIM:224050
Cranioectodermal Dysplasia	Short distal phalanx of finger, Finger syndactyly, Abnormal diaphysis morphology, Clinodactyly of...	ORPHA:1515
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Short stature, Intent...	OMIM:608029
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Charcot-Marie-Tooth Disease Type 4A	Vocal cord paresis, Poor fine motor coordination, Scoliosis, Impaired pain sensation, Quadriceps ...	ORPHA:99948
Periventricular Nodular Heterotopia 8	Cerebellar vermis atrophy, Spasticity, Delayed CNS myelination	OMIM:618185
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Galactosemia Iv	Hepatomegaly, Cataract	OMIM:618881
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Bardet-Biedl Syndrome 21	Abnormality of the dentition, Retinal thinning, Hyperautofluorescent macular lesion, Obesity, Con...	OMIM:617406
Leukodystrophy, Hypomyelinating, 18	Spasticity, Cerebellar atrophy, Dysmetria, Babinski sign, Demyelinating peripheral neuropathy, At...	OMIM:618404
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Anisospondyly, Cone-shaped epiphyses o...	ORPHA:2484
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Amenorrhea, Per...	OMIM:619425
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Recurrent acute respiratory tract infection, Foot dorsiflexor weakness, Axonal degeneration, Peri...	OMIM:620011
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebellar atrophy, Optic atrophy, Recurrent upper respiratory tract infections, Hemipleg...	ORPHA:352596
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebral cortical atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Gait imbalance, ...	OMIM:618369
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Retinal degeneration	OMIM:601780
Perrault Syndrome 1	Cerebellar atrophy, Gonadal dysgenesis, Gait ataxia, Primary amenorrhea, Short stature, Ataxia, I...	OMIM:233400
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Fasciculations, Tortuosity of conjunctival vessels, Limb ataxia, Gait ataxia,...	OMIM:613728
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at...	OMIM:616948
Retinal Cone Dystrophy 1	Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:180020
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia	OMIM:613402
Krabbe Disease	Optic atrophy, Neurodegeneration, Peripheral demyelination, Diffuse cerebral atrophy, CNS demyeli...	OMIM:245200
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Cerebral atrophy, Inability to walk, Lumbar hyperlordosis, Lower limb spasticit...	OMIM:616756
Ceroid Lipofuscinosis, Neuronal, 2	Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme...	OMIM:204500
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, J...	ORPHA:577
Congenital Myopathy 10B, Mild Variant	Recurrent pneumonia, Difficulty walking, Neck muscle weakness, Limb muscle weakness, Proximal mus...	OMIM:620249
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Brachydactyly, Short femoral neck, Kyphosis, Delayed ossification o...	OMIM:618392
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Squared-off pl...	OMIM:271530
Laing Early-Onset Distal Myopathy	Proximal muscle weakness in lower limbs, Weakness of orbicularis oculi muscle, Neck muscle weakne...	ORPHA:59135
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Cerebral atrophy, Downslanted palpebral fissures, Difficu...	OMIM:611890
Microlissencephaly	Pneumonia, Cerebral cortical atrophy, Cerebellar atrophy, Hypertonia, Cerebral dysmyelination	ORPHA:1083
Pachydermoperiostosis	Small hand, Clubbing of toes, Abnormal epiphysis morphology, Limitation of joint mobility, Osteom...	ORPHA:2796
Charcot-Marie-Tooth Disease, Type 4D	Distal sensory impairment, Proximal muscle weakness, Kyphoscoliosis, Gait disturbance, Impaired d...	OMIM:601455
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Sparse lateral eyebrow, Elevated circulating alkaline phosphatase concentrati...	OMIM:618879
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Spinocerebellar Ataxia, Autosomal Recessive 20	Wide nasal base, Cerebral cortical atrophy, Spasticity, Short palpebral fissure, Cerebellar atrop...	OMIM:616354
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Platyspondyly, Hip dislocation, Shortening of all middle phalanges of the f...	OMIM:226980
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lowe...	OMIM:617916
Spinocerebellar Ataxia 25	Cerebellar atrophy, Impaired pain sensation, Decreased number of peripheral myelinated nerve fibe...	OMIM:608703
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Somatic sensory dysfunction, Foot osteomyelitis, Fasciculations, Foot dorsiflexor weakness, Axona...	OMIM:600882
Multiple Mitochondrial Dysfunctions Syndrome 6	Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Dysmetria, Atrophy/Degeneration...	OMIM:617954
Mitochondrial Complex I Deficiency, Nuclear Type 15	Optic atrophy, Cerebellar atrophy, Kyphosis, Intrauterine growth retardation, Neonatal death, CNS...	OMIM:618237
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Hip contracture, Bowing of the long bones, Abnormal femoral epiphy...	OMIM:255800
Pontocerebellar Hypoplasia, Type 2D	Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,...	OMIM:613811
Spastic Ataxia 9, Autosomal Recessive	Spasticity, Growth delay, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign, Abn...	OMIM:618438
Dystonia 22, Juvenile-Onset	Mental deterioration, Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tre...	OMIM:620453
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteopenia, Hip osteoarthritis, Limitation of joint mobility, Short toe, Osteoarth...	ORPHA:2619
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Attenuation of retinal blood...	OMIM:616108
Pelizaeus-Merzbacher Disease	Mental deterioration, Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign...	OMIM:312080
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Enlarged kidney	OMIM:615285
Ataxia-Telangiectasia-Like Disorder 2	Absent pubertal growth spurt, Cerebellar atrophy, Neurodegeneration, Conjunctival telangiectasia,...	OMIM:615919
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Short femoral neck, Camptodactyly of finger, Lumbar hyperlordosis, C...	ORPHA:2848
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Segmenta...	OMIM:607791
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss of ambul...	OMIM:618088
Alg6-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Abnormality of the liver, Retinal...	ORPHA:79320
Ceroid Lipofuscinosis, Neuronal, 10	Wide nasal bridge, Mental deterioration, Spasticity, Sensory axonal neuropathy, Cerebellar atroph...	OMIM:610127
Warburg Micro Syndrome 1	Joint hypermobility, Osteoporosis, Overlapping toe, Kyphoscoliosis	OMIM:600118
Scholte Syndrome	Bifid nasal tip, Broad nasal tip, Cerebellar atrophy, Decreased testicular size, Upslanted palpeb...	OMIM:300977
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Distal lower limb muscle weakness, Acute demyelinating polyneuropathy, Onion bulb formation, Unst...	ORPHA:98916
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weakness, Myoclonus, Dysme...	ORPHA:313772
Spinocerebellar Ataxia 49	Sensory axonal neuropathy, Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor fun...	OMIM:619806
Congenital Disorder Of Glycosylation, Type Iiy	Hip subluxation, Scoliosis, Reduced bone mineral density	OMIM:620200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Positive Romberg sign, Proximal muscle weakness, Parkinsonism, Bradykinesia, Impaired distal vibr...	OMIM:258450
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Upper limb muscle weakness, Difficulty walking, Distal sensory impairment, Axonal regeneration, D...	OMIM:608323
L-2-Hydroxyglutaric Aciduria	Spastic tetraparesis, Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis, Abnormality ...	ORPHA:79314
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve...	OMIM:620639
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Ankle weakness, Foot dorsiflexor weakness, Generalized m...	ORPHA:98912
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Steppage gait, Impaired distal tactile sensation, Distal muscle wea...	OMIM:610100
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Loss of ambulation...	OMIM:616680
Hengel-Maroofian-Schols Syndrome	Wide nasal bridge, Spasticity, Abnormal CNS myelination, Cerebellar atrophy, Cerebral atrophy, In...	OMIM:619641
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst...	OMIM:143100
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m...	ORPHA:85435
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Cerebral atrophy, Retinal degeneration, Increased extraneuro...	OMIM:204200
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor...	OMIM:617435
Spastic Ataxia 2, Autosomal Recessive	Mental deterioration, Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait atax...	OMIM:611302
Leukodystrophy, Hypomyelinating, 14	Spasticity, Cerebellar atrophy, Cerebral atrophy, Dystonia, Growth delay	OMIM:617899
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tetraparesis, Acute hepatic failure, 3-Methylglutaconic aciduria, Neuronal loss in central nervou...	OMIM:203700
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Sialidosis Type 2	Osteoporosis, Flexion contracture, Kyphosis, Splenomegaly	ORPHA:87876
Cockayne Syndrome Type 3	Difficulty walking, Peripheral axonal neuropathy, Cognitive impairment, Demyelinating peripheral ...	ORPHA:90324
Short Stature, Dauber-Argente Type	Osteopenia, Decreased fibular diameter, Increased insulin like growth factor binding protein acid...	OMIM:619489
Legg-Calvé-Perthes Disease	Short stature, Abnormality of the dentition, Cartilage destruction	ORPHA:2380
Duchenne Muscular Dystrophy	Proximal muscle weakness, Progressive muscle weakness, Cognitive impairment, Scoliosis, Waddling ...	ORPHA:98896
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteoporosis, Osteopenia, Genu valgum	OMIM:614880
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai...	OMIM:213200
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Wide nasal bridge, Cerebral cortical atrophy, Downslanted palpebral fissures, Aplasia/Hypoplasia ...	ORPHA:3207
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination, Distal sensory impairment, Proximal muscle weakness, Gait disturbance, ...	ORPHA:99944
Spastic Ataxia 3, Autosomal Recessive	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia...	OMIM:611390
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,...	OMIM:259600
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long bones, Thin b...	OMIM:617952
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Wide distal femoral metaphysis, Femoral bowing, Wide pubic symphysis, Recurrent fr...	OMIM:614856
Harel-Yoon Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Upslanted palpebral fissure, Pe...	OMIM:617183
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Hypophosphatemic rickets, Fibular bo...	OMIM:241530
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	External ophthalmoplegia, Spasticity, Optic atrophy, Cerebellar atrophy, Inability to walk, Optic...	OMIM:617086
Cerebrooculofacioskeletal Syndrome 1	Recurrent pneumonia, Cerebellar atrophy, Neurodegeneration, Prominent nose, Prominent nasal bridg...	OMIM:214150
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab...	ORPHA:101110
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Distal sensory impairment, Peripheral axonal neuropathy, Progressive muscle weakness, Macroglossi...	OMIM:151800
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Le...	OMIM:607694
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Broad-based gait, Painless fractures due to injury, Cho...	OMIM:256810
Pontocerebellar Hypoplasia, Type 3	High, narrow palate, Optic atrophy, Spasticity, Depressed nasal bridge, Cerebellar atrophy, Hypop...	OMIM:608027
Metachromatic Leukodystrophy	Optic atrophy, Mental deterioration, Chorea, Peripheral demyelination, Reduced leukocyte arylsulf...	OMIM:250100
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Hypertonia	OMIM:618730
Cerebral Visual Impairment	Optic atrophy, Unusual CNS infection, Central nervous system degeneration, Cerebral palsy, Neurod...	ORPHA:447788
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Flared metaphysis, Short 5th metacarpal, Short...	OMIM:156510
Congenital Bile Acid Synthesis Defect Type 1	Osteoporosis, Splenomegaly	ORPHA:79301
Molybdenum Cofactor Deficiency, Type A	Decreased urinary urate, Increased urinary hypoxanthine level, Peripheral demyelination, Opisthot...	OMIM:252150
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Wide nasal bridge, Temporal cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Promin...	ORPHA:137831
Autosomal Recessive Spastic Paraplegia Type 78	Cerebral cortical atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Progressive spastic par...	ORPHA:513436
Pseudopseudohypoparathyroidism	Osteoporosis, Short metatarsal, Short metacarpal, Brachydactyly	OMIM:612463
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Anteverted nares, Gait ataxia, ...	OMIM:617810
Alexander Disease	Precocious puberty, Spasticity, Chorea, Tremor, Agenesis of corpus callosum, Infectious encephali...	ORPHA:58
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Abnormality of the l...	OMIM:610131
Juvenile Huntington Disease	Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait ataxia, Myoclonus, ...	ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Hepatic failure, Impaired pain sensation...	OMIM:616719
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Broad-based gait, Cerebellar atrophy, Decreased liver function, Difficulty walking, Cerebellar ve...	ORPHA:512260
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Scoliosis, Cerebellar atrophy, Inability to walk, Myoclonus, Rigidity, Loss of amb...	OMIM:618241
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Somatic sensory dysfunction, Distal sensory impairment, Steppage gait, Decreased number of large ...	OMIM:615376
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Difficulty walking, He...	ORPHA:527497
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Rabson-Mendenhall Syndrome	Precocious puberty, Clitoral hypertrophy, Long penis, Nephrocalcinosis, Cardiomyopathy, Furrowed ...	ORPHA:769
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Inability to walk, Limb muscle weakness, Facial diplegia, Tremor, Agenesis of ...	OMIM:218000
Spinocerebellar Ataxia 5	Poor head control, Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordina...	OMIM:600224
Cerebellar Ataxia, Cayman Type	Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc...	OMIM:601238
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Positive ...	ORPHA:101085
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormal optic nerve morphology, Abnormality of the submand...	ORPHA:79078
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Osteomyelitis, Impaired vibration sensation in the lower limbs, Gait ataxia, ...	ORPHA:88628
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Wide nasal bridge, Global brain atrophy, Eczematoid dermatitis, Inability to...	ORPHA:488632
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Alpha-B Crystallin-Related Late-Onset Myopathy	Difficulty walking, Neck muscle weakness, Progressive distal muscle weakness, Facial diplegia, Fo...	ORPHA:399058
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Spastic paraplegia, Optic atrophy, Cerebral cortical atrophy, Depressed nasal ridge, Abnormality ...	ORPHA:847
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Short femoral neck, Upper l...	ORPHA:94068
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Tetraparesis, Prominent nose, Antal...	OMIM:620546
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteoporosis, Osteopenia, Hyperlipidemia	ORPHA:369
Spinocerebellar Ataxia 48	Mental deterioration, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, ...	OMIM:618093
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Spinocerebellar Ataxia 28	Ophthalmoparesis, Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ...	OMIM:610246
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Urinary incontinence, Cerebellar atrophy, Tremor...	OMIM:616795
Developmental And Epileptic Encephalopathy 37	Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,...	OMIM:616981
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Progressive spastic paraplegia, Diffic...	ORPHA:280763
Parastremmatic Dwarfism	Severe short stature, Short neck, Flexion contracture, Scoliosis, Kyphosis	OMIM:168400
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Short attention span, Tremor, Dysmetria, Impaired tandem gait, Low...	OMIM:619028
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Cogn...	OMIM:607346
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Diffuse cerebellar atrophy, Broad-based gait, Growth delay, Progressive truncal ataxia, Difficult...	ORPHA:363429
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Acute Disseminated Encephalomyelitis	Mental deterioration, Involuntary movements, Post-vaccination measles, Myelitis, Somatic sensory ...	ORPHA:83597
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Osteoporosis, Eosinophilia	OMIM:620532
Japanese Encephalitis	Muscle flaccidity, Opisthotonus, Cognitive impairment, Paucity of anterior horn motor neurons, Me...	ORPHA:79139
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin...	OMIM:143200
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Variant Abeta2M Amyloidosis	Pathologic fracture, Abnormal salivary gland morphology, Multiple bony cystic lesions, Intestinal...	ORPHA:314652
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Limb ataxia, Limb dystonia, ...	OMIM:617560
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Myoclonus, Tremor, Proximal muscle weakness, Abnormal pyramidal sign, Ptosis,...	OMIM:612016
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Ophthalmoparesis, Optic atrophy, Loss of Purkinje cells in the cer...	ORPHA:98755
Spinocerebellar Ataxia Type 17	Blepharospasm, Mental deterioration, Involuntary movements, Spasticity, Cerebellar atrophy, Chore...	ORPHA:98759
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Mucolipidosis Type Iii Alpha/Beta	Joint stiffness, Kyphoscoliosis, Generalized osteoporosis, Flexion contracture, Osteolysis	ORPHA:423461
Hypercholanemia, Familial, 2	Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Triosephosphate Isomerase Deficiency	Spasticity, Cholelithiasis, Cerebral atrophy, Cholecystitis, Tremor, Splenomegaly, Dystonia, Jaun...	OMIM:615512
New-Onset Refractory Status Epilepticus	Global brain atrophy, Confusion, Cerebellar edema, Infectious encephalitis, Cognitive impairment	ORPHA:363558
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
Myopathy, Scapulohumeroperoneal	Foot dorsiflexor weakness, Progressive muscle weakness, Hyperlordosis, Facial palsy, Scoliosis, W...	OMIM:616852
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, M...	OMIM:614254
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Osteoporosis, Abnormal mast...	ORPHA:98848
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Cantu Syndrome	Platyspondyly, Erlenmeyer flask deformity of the femurs, Broad hallux, Ovoid vertebral bodies, Br...	OMIM:239850
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Spasticity, Hepatic fibrosis, Somatic sensory dysfunction, Cerebellar vermis atrop...	ORPHA:466794
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Dysmetria, Short neck, Short stature, Recurren...	ORPHA:320385
Autosomal Recessive Centronuclear Myopathy	Ophthalmoparesis, Bifid uvula, Facial diplegia, Ophthalmoplegia, Progressive muscle weakness, Hyp...	ORPHA:169186
Bardet-Biedl Syndrome 2	Hypogonadism, Obesity, External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy	OMIM:615981
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr...	OMIM:618090
Congenital Neuronal Ceroid Lipofuscinosis	Wide nasal bridge, Spasticity, Cerebellar atrophy, Increased circulating lactate dehydrogenase co...	ORPHA:168486
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Difficulty walking, Distal lower limb muscle weakness, P...	ORPHA:399096
Congenital Disorder Of Glycosylation, Type Iih	Depressed nasal bridge, Cerebellar atrophy, Elevated circulating aspartate aminotransferase conce...	OMIM:611182
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand paresthesia, Vocal cord paralysis, Hypoesthesia, Segmental peripheral demyelination/remyelin...	OMIM:162500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Peripheral demyelination, Hepatosplenomegaly, Cryptorchidism, Di...	OMIM:609136
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Hyperkinetic mov...	OMIM:617493
Spinocerebellar Ataxia 46	Sensory axonal neuropathy, Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, D...	OMIM:617770
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Infantile Refsum Disease	Optic atrophy, Spasticity, Progressive muscle weakness, Ataxia, Hepatomegaly, Facial palsy, Short...	ORPHA:772
Immunodeficiency 83, Susceptibility To Viral Infections	Mental deterioration, Herpes simplex encephalitis, Confusion, Hemiparesis, Gliosis, Meningitis	OMIM:613002
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga...	OMIM:619862
Microcephaly 10, Primary, Autosomal Recessive	Choanal atresia, Spasticity, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardatio...	OMIM:615095
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Leukodystrophy, Neurodegeneration, Ankyloglossia, Peripheral demyel...	OMIM:619475
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Cryptorchidism, 3-Methylglutaconic ac...	ORPHA:496790
Huntington Disease-Like 1	Cerebral cortical atrophy, Involuntary movements, Memory impairment, Cerebellar atrophy, Incoordi...	ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia	OMIM:615705
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Osteogenesis Imperfecta, Type Iii	Kyphosis, Slender long bone, Recurrent fractures, Bowing of limbs due to multiple fractures, Tibi...	OMIM:259420
Spinocerebellar Ataxia Type 42	Upper limb postural tremor, Urinary incontinence, Cerebellar atrophy, Resting tremor, Cerebellar ...	ORPHA:458803
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Gastric varix, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Behr Syndrome	Optic atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetri...	OMIM:210000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul...	OMIM:264700
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Brunet-Wagner Neurodevelopmental Syndrome	Wide nasal bridge, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Thin eyebrow	OMIM:619690
Spinocerebellar Ataxia 50	Memory impairment, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclo...	OMIM:620158
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Impaired vibratory sensation, Spastic paraplegia, Proximal muscle weakness in lower limbs, Cerebe...	OMIM:620538
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Spasticity, Cerebellar atr...	OMIM:301006
Felty Syndrome	Bone marrow hypocellularity, Limitation of joint mobility, Abnormal lymphocyte morphology, Spleno...	ORPHA:47612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Scoliosis, Cerebellar atrophy, Tip-toe gait, Shoulder girdle muscle weakness, Diffi...	OMIM:606612
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Spastic Paraplegia 20, Autosomal Recessive	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weakness, Difficul...	OMIM:275900
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Increased circulating lactate dehydrogenase concentration, Bilateral ptosis, Gener...	ORPHA:254361
Crigler-Najjar Syndrome	Ophthalmoparesis, Memory impairment, Abnormality of the liver, Infectious encephalitis, Cognitive...	ORPHA:205
Machado-Joseph Disease	External ophthalmoplegia, Spasticity, Parkinsonism, Ataxia, Bradykinesia, Progressive cerebellar ...	OMIM:109150
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Depressed nasal ridge, Hypopituitarism, Distichiasis, Progressive muscle weakness, Delayed pubert...	OMIM:600462
Pontocerebellar Hypoplasia, Type 1D	Tongue fasciculations, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atroph...	OMIM:618065
Cone-Rod Dystrophy 11	Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Fragile X Tremor/Ataxia Syndrome	Mental deterioration, Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Memory im...	OMIM:300623
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Trem...	ORPHA:98763
Molybdenum Cofactor Deficiency, Type B	Decreased urinary urate, Increased urinary taurine, Cerebral atrophy, Increased urinary hypoxanth...	OMIM:252160
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Sensory axonal neuropathy, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb dystonia, Fo...	OMIM:619054
Spinocerebellar Ataxia 11	Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel...	OMIM:604432
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Tongue fasciculations, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Dysmetria...	OMIM:618170
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy	OMIM:615596
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum, Kyphoscoliosis, Generalized osteoporosis, Small joint hypermobilty, S...	OMIM:184095
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Cerebral cortical atrophy, Growth delay, Intrauterine growth retardation, Cryptorchidism, 3-Methy...	ORPHA:1194
Giant Axonal Neuropathy 1, Autosomal Recessive	Spastic paraplegia, Sensory axonal neuropathy, Lateral ventricle dilatation, Abnormal cerebellum ...	OMIM:256850
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Cerebellar atrophy, Leukodystrophy, Babinski sign, Ophthalmoplegia, Ptosis, Ataxia...	OMIM:618226
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Macular degeneration, Cerebral atrophy, Retinal degeneration, Increased neuronal a...	OMIM:256730
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl...	OMIM:616053
Ataxia-Telangiectasia-Like Disorder	Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Gait ataxia, ...	ORPHA:251347
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Fasciculations, Tortuosity of conjunctival vessels, Limb ataxia, Abnormal cir...	ORPHA:284289
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Postnatal growth ret...	ORPHA:79333
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612287
Spinocerebellar Ataxia Type 27	Memory impairment, Sensory axonal neuropathy, Cerebellar atrophy, Hand tremor, Difficulty walking...	ORPHA:98764
Muscular Dystrophy, Congenital, With Or Without Seizures	Mental deterioration, Proximal muscle weakness, Loss of ambulation, Progressive muscle weakness, ...	OMIM:620166
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Broad-based gait, Inability to walk, Decreased number of peripheral myelinated nerve fibers, Axon...	OMIM:615490
Adrenomyeloneuropathy	Spasticity, Distal sensory impairment, Cognitive impairment, Urinary incontinence, Cerebral dysmy...	ORPHA:139399
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Tongue fasciculations, Neuronal loss in central nervous system, Ataxia, Urinary incontinence, Spa...	OMIM:617193
Acromesomelic Dysplasia, Maroteaux Type	Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Joint s...	ORPHA:40
Retinal Dystrophy And Obesity	Obesity, Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detac...	OMIM:616188
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Myoclonus, Tremor, Proximal muscle weakness, Abnormal pyramidal sign, Dystoni...	ORPHA:139485
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Absent pubertal growth spurt, Progressive spastic paraplegia, Cerebral atrophy, Diffi...	ORPHA:464282
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi...	OMIM:617633
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis, Clinodactyly	OMIM:614838
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Prostate canc...	ORPHA:157798
Spastic Paraplegia With Neuropathy And Poikiloderma	Spastic paraplegia, Demyelinating sensory neuropathy, Absent eyelashes, Absent eyebrow, Demyelina...	OMIM:182815
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado...	OMIM:615386
Congenital Disorder Of Glycosylation, Type Iin	Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cerebellar vermis atrophy, Poor head con...	OMIM:616721
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Nestor-Guillermo Progeria Syndrome	Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, Osteoporosis...	OMIM:614008
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait ataxia, Clumsiness, Cognitive impai...	ORPHA:1947
Typhoid	Epistaxis, Splenomegaly, Tremor, Skin rash, Infectious encephalitis, Hypertonia, Ataxia, Hepatome...	ORPHA:99745
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul...	OMIM:277440
Menkes Disease	Metaphyseal spurs, Joint hypermobility, Metaphyseal widening, Osteoporosis, Decreased circulating...	OMIM:309400
Machado-Joseph Disease Type 3	Spasticity, Degeneration of the striatum, Peripheral axonal neuropathy, Abnormal pyramidal sign, ...	ORPHA:276244
Leprechaunism	Megarectum, Clitoral hypertrophy, Long penis, Nephrocalcinosis, Overgrowth of external genitalia,...	ORPHA:508
Spinocerebellar Ataxia 2	Spasticity, Action tremor, Ophthalmoplegia, Parkinsonism, Ataxia, Urinary incontinence, Unsteady ...	OMIM:183090
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria...	ORPHA:93952
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia	OMIM:619164
Benign Schwannoma	Nasal polyposis, Abnormality of the liver, Abnormal cranial nerve morphology, Intestinal polyposi...	ORPHA:252164
Developmental And Epileptic Encephalopathy 44	Spasticity, Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination, Short stature, Dystoni...	OMIM:617132
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Highly arched eyebrow, Spasticity, Cerebral atrophy, Cerebellar vermis atrophy, Delayed CNS myeli...	OMIM:616154
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Peho-Like Syndrome	Optic atrophy, Cerebellar atrophy, Myoclonus, Epicanthus, Short nose	OMIM:617507
Pontocerebellar Hypoplasia, Type 6	Cerebellar vermis hypoplasia, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral...	OMIM:611523
Tay-Sachs Disease	Lower limb muscle weakness, Aspiration pneumonia, Incoordination, Poor fine motor coordination, P...	ORPHA:845
Aicardi-Goutieres Syndrome 4	Spasticity, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral...	OMIM:610333
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Optic atrophy, Cerebellar atrophy, Bulbous nose, Anteverted nares, Bulbar palsy, Epicanthus, Limb...	OMIM:618547
Aminoacylase 1 Deficiency	Wide nasal bridge, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Delayed CNS m...	OMIM:609924
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Vertebral wedging, Anterior ra...	OMIM:610967
Pontocerebellar Hypoplasia, Type 1E	Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia	OMIM:619303
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Abnormality of the vertebral column, Nasa...	ORPHA:1163
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Osteoporosis, Syndactyly	OMIM:616006
Lissencephaly 4	Wide nasal bridge, Agenesis of corpus callosum, Cerebellar hypoplasia, Babinski sign, Colpocephal...	OMIM:614019
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Thin metacarpal cortices, Recurrent fractures, Kyphoscoliosis, Joint hypermobility...	OMIM:616507
Spastic Paraplegia 79B, Autosomal Recessive	Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Impaired vibratory sensation, Spasti...	OMIM:615491
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Wide nasal bridge, Cerebellar atrophy, Growth delay, Cerebral atrophy, Downslanted palpebral fiss...	OMIM:618659
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Charcot-Marie-Tooth Disease, Type 4J	Distal sensory impairment, Peripheral hypomyelination, Gait disturbance, Axonal loss, Distal musc...	OMIM:611228
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Splenomegaly, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy	OMIM:602271
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Wide nasal bridge, Cerebellar atrophy, Prominent nasal bridge, Myoclonus, Intention tremor, Dysme...	OMIM:618356
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Cog5-Cdg	Wide nasal bridge, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, L...	ORPHA:263487
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Spinocerebellar Ataxia 1	Spasticity, Proximal muscle weakness, Cognitive impairment, Optic disc pallor, Progressive cerebe...	OMIM:164400
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	High, narrow palate, Impaired pain sensation, Foot dorsiflexor weakness, Distal sensory impairmen...	OMIM:618124
Congenital Fibrinogen Deficiency	Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Sple...	ORPHA:335
Charcot-Marie-Tooth Disease, Type 4B1	Irregular myelin loops, Distal sensory impairment, Proximal muscle weakness, Facial palsy, Distal...	OMIM:601382
Spinocerebellar Ataxia Type 29	Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom...	ORPHA:208513
Mannosidosis, Alpha B, Lysosomal	Spasticity, Epicanthus, Abnormal pyramidal sign, Hepatomegaly, Depressed nasal ridge, Increased v...	OMIM:248500
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Peroxisome Biogenesis Disorder 6B	Impaired vibratory sensation, Cerebellar atrophy, Leukodystrophy, Decreased liver function, Delay...	OMIM:614871
Intellectual Developmental Disorder, X-Linked 104	Wide nasal bridge, Optic atrophy, Spasticity, Cerebral cortical atrophy, Bifid nasal tip, Tremor,...	OMIM:300983
Functioning Gonadotropic Adenoma	Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy...	ORPHA:91348
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Spasticity, Lateral ventricle dilatation, Paraparesis, Delayed CNS myelination,...	OMIM:617854
Mucopolysaccharidosis, Type Iva	Platyspondyly, Constricted iliac wing, Genu valgum, Ovoid vertebral bodies, Epiphyseal deformitie...	OMIM:253000
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Depressed nasal bridge, Involuntary movements, Cerebellar atrophy, Cerebral atrophy, Prominent cr...	OMIM:617804
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Osteomalacia, Avascular necrosis of the capital femoral epiphysis, Joint sti...	ORPHA:1901
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Kyphosis, Recurrent fractures, Short humerus, Lateral femoral bowi...	OMIM:239000
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612286
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity, Cataract	OMIM:620425
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s...	OMIM:616204
Filippi Syndrome	Wide nasal bridge, Optic atrophy, Cerebellar atrophy, Underdeveloped nasal alae, Postnatal growth...	OMIM:272440
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Zika Virus Disease	Myelitis, Intrauterine growth retardation, Skin rash, Infectious encephalitis, Abnormal optic dis...	ORPHA:448237
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Tip-toe gait, Difficulty walking, Facial diplegia, Generalized muscle weaknes...	ORPHA:370980
Leukodystrophy, Hypomyelinating, 15	Severe short stature, Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukody...	OMIM:617951
Infantile Neuroaxonal Dystrophy	Ataxia, Optic atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Increased circulatin...	ORPHA:35069
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Optic atrophy, Bifid uvula, Cerebellar atrophy, Cerebral atrophy, Dilated fourth ventricle, Intra...	OMIM:620428
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston...	ORPHA:71517
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Unsteady gait, Scoliosis, Kyphosis, Synophrys	OMIM:300861
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Constricted iliac wing, Hypoplasia of the capital femoral epiphysis, Joint stiffne...	OMIM:253010
Aniridia 2	Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Spasticity, Thoracolumbar scoliosis, Narrow palpebral fissure, Ataxia, Hepatomegaly, High palate,...	OMIM:618443
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Difficulty walking, Speech apraxia, Esophagitis, Hepatic steatosis, Proximal muscle weakness, Ata...	OMIM:615356
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Limb dyston...	OMIM:620269
Folinic Acid-Responsive Seizures	Optic atrophy, Broad-based gait, Frontotemporal cerebral atrophy, Cerebellar atrophy, Difficulty ...	ORPHA:79097
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial bowing, ...	OMIM:231070
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, B...	OMIM:619073
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Acute leukemia, Hypogonadism, Abnormal stomach morphology, Renal insuf...	ORPHA:281090
Progressive Myoclonic Epilepsy Type 3	Optic atrophy, Cerebellar atrophy, Limb myoclonus, Cerebral atrophy, Progressive psychomotor dete...	ORPHA:263516
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Proximal muscle weakness, Peroneal muscle weakness, Progressive muscle weakness, Hyperlordosis, G...	OMIM:611588
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebellar ve...	OMIM:614381
Legionnaires Disease	Hepatitis, Renal insufficiency, Splenomegaly, Infectious encephalitis, Hematuria, Proteinuria, Re...	ORPHA:549
Kaposiform Lymphangiomatosis	Fractures of the long bones, Abnormal form of the vertebral bodies, Osteolysis, Hepatosplenomegal...	ORPHA:464329
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Short...	ORPHA:198
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:79240
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hypermanganesemia With Dystonia 2	Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Cerebral atrop...	OMIM:617013
Coats Disease	Cataract, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology	ORPHA:190
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteoporosis, Osteopenia	ORPHA:529665
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Limitation of joint mobility, Biconcave vertebral bodies, Kyphoscoliosis, Ara...	OMIM:236200
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Spasticity, Cerebellar atrophy, Leukodystrophy, Tremor, Rigidity, Cerebral hypomye...	OMIM:612438
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Wide nasal bridge, Nephrocalcinosis, Difficulty walking, Inability to walk, Astrocytosis	OMIM:611087
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Inability to walk, Astrocytosis, Protruding tongue, Pontocerebellar atrophy, Myositis, Recurrent ...	ORPHA:258
Insulin-Resistance Syndrome Type B	Nephritis, Biliary cirrhosis, Glycosuria, Leukopenia, Polycystic ovaries, Enlarged polycystic ova...	ORPHA:2298
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Mental deterioration, Herpes simplex encephalitis, Confusion, Hemiparesis, Meningitis	OMIM:617900
Intermediate Osteopetrosis	Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cortical scler...	ORPHA:210110
Poliomyelitis	Myelitis, Muscle flaccidity, Lower limb muscle weakness, Fasciculations, Inability to walk, Upper...	ORPHA:2912
Kaya-Barakat-Masson Syndrome	Spasticity, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retard...	OMIM:619125
Pai Syndrome	Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Median cleft up...	ORPHA:1993
Hereditary Methemoglobinemia	Spasticity, Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Limb dystonia, C...	ORPHA:621
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi...	OMIM:607634
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Broad femoral neck, Abnormal metaphysis morphology, Flat capital femor...	ORPHA:157965
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Clinodactyly, Pancytopenia, Hypomethioninemia, Macrocytic anem...	ORPHA:2169
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Spastic paraparesis, Upper limb muscle weakness, Lower limb muscle weakness, Diffi...	ORPHA:254930
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Broad-based gait, Cerebellar atrophy, Dysmetria, Proximal muscle weakness, Progressive external o...	OMIM:618098
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Hyperlipidemia, Acroosteolysis of ...	ORPHA:90154
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna	ORPHA:77296
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Squared iliac bones, Thoracic scoliosis, Cervical C2/C3 vertebral fusion, Generalized...	OMIM:618000
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Impaired distal vibration sensation, Gonadal dysgenesis, Decreased number of peripheral myelinate...	OMIM:607080
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Peripheral demyelination, Intrauterine growth retardation, Abnormal...	OMIM:616733
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Deafness, Dystonia, And Cerebral Hypomyelination	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Cerebral hy...	OMIM:300475
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Short toe, Short finger, Hypocalcemic tetany, Subcutaneous ossification, Brach...	OMIM:103580
Christianson Syndrome	Cerebral cortical atrophy, Cerebellar atrophy, Abnormality of the nose, Thick eyebrow, Gait ataxi...	ORPHA:85278
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Generalized muscle weakne...	OMIM:256600
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system	ORPHA:231736
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Depressed nasal bridge, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, ...	OMIM:619260
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Osteolysis, Hip contracture, Posterior scallopin...	ORPHA:3042
Mucolipidosis Iv	Optic atrophy, Cerebellar atrophy, Dysplastic corpus callosum, Babinski sign, Progressive neurolo...	OMIM:252650
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Limitation of joint mobility, Hyperlipidemia, Acroosteolysis of d...	ORPHA:90153
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Global brain atrophy, Cerebellar vermis atrophy, Impaired vibration s...	ORPHA:94124
Liang-Wang Syndrome	Wide nasal bridge, Cerebellar atrophy, Cerebral atrophy, Downslanted palpebral fissures, Ataxia, ...	OMIM:618729
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Female infertility, Loss of ambulation, Progressive muscle weakness, Short stature, Premature ova...	OMIM:619518
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Dysmenorrhea, Polycystic ovaries, Myoglobinuria, Cirrhosis, Hepat...	ORPHA:264580
Nephronophthisis 15	Obesity, Retinal degeneration	OMIM:614845
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Cerebellar atrophy, Broad eyebrow, Narrow palpebral fissure, Muscle weakness, ...	OMIM:618302
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Rhyns Syndrome	Osteopenia, Radial bowing, Brachydactyly, Short long bone, Osteoporosis, Short femoral neck	OMIM:602152
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dysto...	ORPHA:329284
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Narrow foramen obturatorium, Osteolysis, Arthritis	ORPHA:220393
Neuropathy, Hereditary Sensory, Type Ie	Memory impairment, Cerebral atrophy, Dementia, Osteomyelitis, Decreased number of peripheral myel...	OMIM:614116
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence, Intrauterine growth retardation, Limb muscle weakness, Axonal degeneration,...	OMIM:604320
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Hyperzincemia With Functional Zinc Depletion	Osteoporosis, Increased serum zinc	OMIM:601979
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Infantile Cerebellar-Retinal Degeneration	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Demyelinating peripheral neuropathy...	OMIM:614559
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Hematuria, Posterior embryotoxon, Retinal detachment, Corneal opacity, I...	ORPHA:1473
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebral cortical atrophy, Cerebellar atrophy, Chorea, Intrauterine growth retardation, Cerebella...	OMIM:619922
Sandhoff Disease	Progressive psychomotor deterioration, Splenomegaly, Motor deterioration, Ataxia, Hepatomegaly, R...	ORPHA:796
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne...	OMIM:615290
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Optic atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Le...	OMIM:619576
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Hi...	OMIM:269920
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Co...	ORPHA:97290
Isolated Atp Synthase Deficiency	Spastic paraplegia, Renal hypoplasia, Optic atrophy, Cerebellar atrophy, Cerebral cortical atroph...	ORPHA:254913
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Co...	ORPHA:319487
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Increased level of gamma-aminobutyric acid in urine, Hyperkinetic movements, ...	OMIM:271980
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Foot dorsiflexor weakness, Di...	OMIM:614455
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ...	OMIM:166260
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Joint contracture, Hypertriglyceridemia, Osteoporosis, Scoliosis, Kyphosis	OMIM:615381
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Optic atrophy, Cerebral cortical atrophy, Narrow palate, Cerebellar atrophy, Inability to walk, D...	OMIM:617481
Finnish Upper Limb-Onset Distal Myopathy	Difficulty walking, Progressive distal muscle weakness, Distal sensory impairment, Clumsiness, St...	ORPHA:399086
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:858
Osteogenesis Imperfecta, Type Xix	Osteopenia, Vertebral wedging, Bowing of the arm, Biconcave vertebral bodies, Joint hypermobility...	OMIM:301014
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Spinocerebellar Ataxia 21	Mental deterioration, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rig...	OMIM:607454
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft upper lip, Bifid uvula, High palate, Nasal polyposis	OMIM:155145
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Cerebellar atrophy, Cerebral atrophy, Aspiration pneumonia, Abnormal cir...	ORPHA:79264
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Prune1-Related Neurological Syndrome	Tongue fasciculations, Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, ...	ORPHA:544469
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Abnormal medulla oblongata morphology, Unusual skin infection, Oculomotor nerve palsy,...	ORPHA:68
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Horseshoe kidney, Tremor, Kypho...	OMIM:617664
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ...	ORPHA:423275
Wars2-Related Combined Oxidative Phosphorylation Defect	Wide nasal bridge, Cerebellar vermis hypoplasia, Cerebellar atrophy, Lateral ventricle dilatation...	ORPHA:572798
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Cerebral palsy, Bulbous nose, Wide nasal ridge, Babinski sign, Limb hypertoni...	OMIM:612936
Leukodystrophy, Hypomyelinating, 11	Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Myoclonus, Tremor, Ataxia	OMIM:616494
Neurofibroma	Intestinal bleeding, Abnormal cranial nerve morphology, Enlargement of parotid gland, Abnormal bi...	ORPHA:252183
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnormal lower motor neur...	OMIM:602433
Autosomal Dominant Optic Atrophy, Classic Form	Spastic paraplegia, Spasticity, Optic atrophy, Cerebellar atrophy, Dementia, Hypogonadism, Hemipa...	ORPHA:98673
Mepan Syndrome	Optic atrophy, Spasticity, Hemidystonia, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoclonus,...	ORPHA:508093
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign...	OMIM:128100
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Babinski sign, Ptosis, Hypertonia, Torticollis, Dystonia, Scoliosis, Spastic ...	OMIM:619071
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Osteolysis	ORPHA:659
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage	ORPHA:2867
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, CNS hypomyelination, Lower limb muscle weakness, Leukodystrophy, Abnormal cer...	OMIM:610532
Cofs Syndrome	Wide nasal bridge, Optic atrophy, Cerebral cortical atrophy, Hypogonadism, Intrauterine growth re...	ORPHA:1466
Jaberi-Elahi Syndrome	Optic atrophy, Broad-based gait, Sparse eyebrow, Kyphosis, Depressed nasal bridge, Inability to w...	OMIM:617988
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Cryptor...	OMIM:618917
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Depressed nasal bridge, Hypogonadism, Decreased testicular size, Cerebellar vermis atrophy, Bulbo...	OMIM:300354
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lattice retinal degeneration, Cataract, Lens subluxation, Retinal detachment	OMIM:614292
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Dysmetria, ...	OMIM:617710
Machado-Joseph Disease Type 1	Spasticity, Degeneration of the striatum, Cerebellar atrophy, Memory impairment, Substantia nigra...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Degeneration of the striatum, Cerebellar atrophy, Memory impairment, Substantia nigra...	ORPHA:276241
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu...	ORPHA:1452
Tangier Disease	Impaired pain sensation, Ectropion, Impaired temperature sensation, Peripheral demyelination, Fac...	OMIM:205400
Myopathy With Extrapyramidal Signs	Difficulty walking, Proximal muscle weakness, Peripheral axonal neuropathy, Epicanthus, Short nec...	OMIM:615673
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Precocious costochondral ossification...	OMIM:271630
Senior-Loken Syndrome	Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o...	ORPHA:3156
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Vocal cord paresis, Difficulty walking, Head tremor, Positive Romberg sign...	ORPHA:99949
Spondylo-Ocular Syndrome	Platyspondyly, Osteoporosis, Joint hypermobility, Thoracic kyphosis	ORPHA:85194
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Hyp...	OMIM:230600
Spinocerebellar Ataxia 34	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax...	OMIM:133190
Aceruloplasminemia	Blepharospasm, Involuntary movements, Memory impairment, Abnormal pancreas morphology, Chorea, Li...	ORPHA:48818
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation, Postnatal growth retardation, Cryptorchidism, Short neck, High pala...	OMIM:611209
Perlman Syndrome	High, narrow palate, Wide nasal bridge, Abnormal pancreas morphology, Anteverted nares, Cryptorch...	ORPHA:2849
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina	OMIM:613801
Developmental And Epileptic Encephalopathy 98	Attention deficit hyperactivity disorder, Cerebellar atrophy, Cerebral atrophy	OMIM:619605
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick...	ORPHA:289176
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Distal sensory impairment, Neonatal death, Peripheral hypomyelination, Vocal cor...	OMIM:616287
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Generalized dystonia, Neurod...	OMIM:614298
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Takenouchi-Kosaki Syndrome	Flared nostrils, Cryptorchidism, Ataxia, Hypospadias, Sparse eyebrow, Downslanted palpebral fissu...	OMIM:616737
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cerebral atrophy, Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia, Progressive...	ORPHA:369847
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Difficulty walking, Action tremor, Hepatomegaly, Jaundice, Bradykinesia, Abn...	ORPHA:309854
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Oste...	ORPHA:289157
Supranuclear Palsy, Progressive, 1	Memory impairment, Falls, Cerebral atrophy, Frontolimbic dementia, Akinesia, Gait imbalance, Retr...	OMIM:601104
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Upper limb muscle weakness, Abnormal cranial nerve morphology, Peripheral hypomyelination, Distal...	OMIM:605253
L-2-Hydroxyglutaric Aciduria	Optic atrophy, Global brain atrophy, Cerebellar atrophy, L-2-hydroxyglutaric aciduria, Severe dem...	OMIM:236792
Warburg Micro Syndrome 4	Small scrotum, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, D...	OMIM:615663
Ruijs-Aalfs Syndrome	Clinodactyly, Elbow flexion contracture, Down-sloping shoulders, Osteoporosis, Thoracic kyphoscol...	OMIM:616200
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Ophthalmoparesis, Optic atrophy, Cerebellar atrophy, Difficulty walking, Prominent nasal ...	OMIM:620451
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Spasticity, Cerebellar atrophy, Intention tremor, Dysmetria, Progressive gait ataxia, Truncal ata...	ORPHA:352403
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis, Cervical spondylosis, Kyphoscoliosis	ORPHA:199354
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, External ophthalmoplegia, Neck muscle weakness, Generalized muscle weaknes...	OMIM:211530
Ophthalmoplegia, External, And Myopia	Chorioretinal degeneration, Retinal degeneration	OMIM:311000
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Lethal Congenital Contracture Syndrome 7	Paralysis, Facial diplegia, Cerebral atrophy, Cerebellar atrophy	OMIM:616286
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Distal Myotilinopathy	Difficulty walking, Progressive proximal muscle weakness, Progressive distal muscle weakness, Los...	ORPHA:98911
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Kyphosis, Myoclonus, Splenomegaly, Decreased beta-galactosidase activity, Diffuse ...	OMIM:230650
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	External ophthalmoplegia, Spasticity, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy,...	OMIM:615838
Lipoid Proteinosis	Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Thick lower lip vermilion, Abnorm...	ORPHA:530
Leigh Syndrome	Spasticity, Leukodystrophy, 3-Methylglutaconic aciduria, Agenesis of corpus callosum, Ophthalmopl...	ORPHA:506
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Spinocerebellar Ataxia 32	Cerebellar atrophy, Azoospermia, Cognitive impairment, Ataxia, Testicular atrophy, Infertility	OMIM:613909
19P13.3 Microduplication Syndrome	Clinodactyly, Kyphoscoliosis, Long fingers, Hip dysplasia, Osteoporosis, Hip subluxation, Hip dis...	ORPHA:447980
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Brachydactyly, Osteoporosis, Short metatars...	OMIM:612462
Immunodeficiency 12	Complete or near-complete absence of specific antibody response to tetanus vaccine, Abnormal lymp...	OMIM:615468
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co...	OMIM:613101
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Ptosis,...	OMIM:615084
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity, Anodontia, Oligodontia, Everted lower lip vermilion, Short stature, Scoliosis, Kyphosis	ORPHA:276630
Srd5A3-Cdg	Optic atrophy, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Decre...	ORPHA:324737
Coproporphyria, Hereditary	Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Increased urinary porpho...	OMIM:121300
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Ataxia, Cerebellar atrophy, Dysmetria, Elevate...	OMIM:618384
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Delayed...	OMIM:616811
Focal Cortical Dysplasia, Type Ii	Astrocytosis, Cognitive impairment, Hemiparesis	OMIM:607341
Desmoplastic Small Round Cell Tumor	Ascites, Ileus, Anemia, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hep...	ORPHA:83469
Autism Spectrum Disorder Due To Auts2 Deficiency	Wide nasal bridge, Highly arched eyebrow, Spasticity, Short palpebral fissure, Eczematoid dermati...	ORPHA:352490
Listeriosis	Arteritis, Hemiparesis, Pustule, Ataxia, Meningitis, Jaundice, Endocarditis, Unusual CNS infectio...	ORPHA:533
Spinocerebellar Ataxia 13	Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb dysmetria, Myoclonu...	OMIM:605259
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia, Peripheral demyelination, CNS demyelination	OMIM:250850
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Highly arched eyebrow, Spasticity, Depressed nasal bridge, CNS hypomyelination, Cerebellar atroph...	OMIM:619286
Kniest Dysplasia	Delayed epiphyseal ossification, Platyspondyly, Dumbbell-shaped femur, Limitation of joint mobili...	OMIM:156550
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Absent pubertal growth spurt, Cerebellar atrophy, Neurodegeneration, Gait ataxia, Short stature	ORPHA:438134
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Head tremor, Tremor, Pontocerebellar atroph...	OMIM:606002
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Splenomegaly, Infectious encephalitis, Severe Epstein Barr virus infection, Recu...	OMIM:308240
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno...	ORPHA:64743
Peroxisomal Acyl-Coa Oxidase Deficiency	Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Elevated circulating hepatic transamina...	OMIM:264470
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Kyphosis, Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hype...	ORPHA:3085
Rhizomelic Chondrodysplasia Punctata, Type 1	Severe short stature, Flat face, Rhizomelia, Epiphyseal stippling, Calcific stippling of infantil...	OMIM:215100
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Azoospermia, Cognitive impairment, Testicular atrophy, Male infertility, Prog...	ORPHA:276183
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, Intestinal l...	ORPHA:397596
Whipple Disease	Uveitis, Myoclonus, Splenomegaly, Infectious encephalitis, Myositis, Myocarditis, Abnormal pyrami...	ORPHA:3452
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Spinocerebellar Ataxia 36	Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Limb ataxia, Gait atax...	OMIM:614153
Lyme Disease	Memory impairment, Paresthesia, Infectious encephalitis, Arthritis, Meningitis, Muscle weakness, ...	ORPHA:91546
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Proximal muscl...	OMIM:607831
3Q13 Microdeletion Syndrome	Wide nasal bridge, Anteverted nares, Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Sho...	ORPHA:1621
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Recurrent fractures, Abnor...	ORPHA:2769
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Cerebral atrophy, Cryptorchidism, Hydronephrosis, Long palpebral fissure, Sco...	OMIM:619797
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Cata...	OMIM:203780
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebral cortical atrophy, Depressed nasal bridge, Global brain atrophy, Cerebellar atrophy, Volv...	OMIM:617802
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Cerebellar atrophy, Organic aciduria, Intrauterine growth retardation, Positive Romberg sign, Myo...	OMIM:301310
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Decreased liver function, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unst...	OMIM:614867
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar at...	OMIM:616239
Nipah Virus Disease	Recurrent pharyngitis, Myoclonus, Tremor, Infectious encephalitis	ORPHA:99825
Multifocal Motor Neuropathy	Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness, Fasciculat...	ORPHA:641
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Peripheral ...	ORPHA:98771
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Abnormal cortical b...	OMIM:614886
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Axial muscle weakness, Progressive external ophthalmoplegia, Ptosis, Respiratory insufficiency du...	ORPHA:663
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Osteoporosis, Bone-marrow foam cells	OMIM:257200
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Optic atrophy, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Intrauterine g...	ORPHA:369939
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Recurrent infections, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy...	OMIM:615471
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Cerebellar atrophy, Cerebellar vermis atrophy, Decreased resp...	OMIM:618347
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Spasticity, Inability to walk, Cerebellar vermis atrophy, Upslanted palpebral fissure, Dysmetria,...	OMIM:618087
Macular Degeneration, Age-Related, 1	Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ...	OMIM:603075
Peho Syndrome	Optic atrophy, Cerebellar atrophy, Peripheral dysmyelination, Myoclonus, Epicanthus, Neuronal los...	OMIM:260565
Peroxisome Biogenesis Disorder 3B	Osteoporosis, Hypocholesterolemia, Elevated circulating phytanic acid concentration	OMIM:266510
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Cerebral atrophy, Prominent nasal bridge, Myoclonus, Chromosomal breakage ind...	OMIM:619060
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Cerebellar atrophy, Anteverted nares, Epicanthus, Spastic tetraparesis, Short nose	OMIM:618506
Osteogenesis Imperfecta, Type X	Platyspondyly, Osteopenia, Genu valgum, Fibular bowing, Tibial bowing, Decreased calvarial ossifi...	OMIM:613848
Hemochromatosis, Type 1	Cardiomyopathy, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, ...	OMIM:235200
Al Amyloidosis	Hypoalbuminemia, Xerostomia, Postural hypotension with compensatory tachycardia, Abnormality of t...	ORPHA:85443
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Abnormal pyramidal sign, Leukodystrophy	DECIPHER:59
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Spasticity, Postnatal growth retardation, Short neck, Prominent coccyx, Ataxia, Chronic otitis me...	OMIM:300966
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Short thumb, Macrocytic anemia, Triphalangeal thum...	OMIM:612562
Sapho Syndrome	Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Abnorma...	ORPHA:793
Boucher-Neuhauser Syndrome	Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Hypogonadotr...	OMIM:215470
Bethlem Muscular Dystrophy	Spinal rigidity, Quadriceps muscle weakness, Difficulty walking, Neck muscle weakness, Reduced ma...	ORPHA:610
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ophthal...	ORPHA:98772
Spinocerebellar Ataxia 47	Wide nasal bridge, Spasticity, Cerebellar vermis atrophy, Chorea, Dysmetria, Ptosis, Ataxia, Shor...	OMIM:617931
Dpm1-Cdg	High, narrow palate, Optic atrophy, Spasticity, Hepatic fibrosis, Cerebellar atrophy, Elevated ci...	ORPHA:79322
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Recurrent respiratory infections, Splenomegaly, Gait disturbance, Aplasia/Hyp...	ORPHA:2585
Incontinentia Pigmenti	Cerebral cortical atrophy, Spasticity, Keratitis, Supernumerary nipple, Skin rash, Hemiplegia/hem...	ORPHA:464
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Neuropathic spinal arthropathy, Nephrolithiasis, Progressive external ophthal...	ORPHA:352447
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri...	OMIM:616589
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Reduced bone mineral density, Hypocalcemia	ORPHA:172
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst	OMIM:268650
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemiplegia, Hepatosplenomegaly, Splenome...	OMIM:603553
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Dysmetria, Distal sensory im...	OMIM:159550
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal degeneration, Cryptorchidism, Cone/cone-rod dystrophy	OMIM:249270
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Cockayne Syndrome A	Cryptorchidism, Ataxia, Hepatomegaly, Irregular menstruation, Cerebral atrophy, Peripheral dysmye...	OMIM:216400
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Arthritis, Recurrent pharyngitis, Hepatomegaly	ORPHA:42642
Mevalonic Aciduria	Recurrent infections, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy...	OMIM:610377
Propionic Acidemia	Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia, Osteoporosis	OMIM:606054
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
X-Linked Intellectual Disability, Stocco Dos Santos Type	Short stature, Small for gestational age, Kyphosis	ORPHA:85288
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Decreased liver func...	OMIM:616299
Chromomycosis	Ankylosis, Osteolysis	ORPHA:182
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Mhc Class Ii Deficiency 1	Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c...	OMIM:209920
Spinocerebellar Ataxia 29	Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C...	OMIM:117360
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Colitis	ORPHA:88643
Adenylosuccinase Deficiency	Spasticity, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Hemiple...	OMIM:103050
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Retinitis Pigmentosa 38	Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy	OMIM:613862
Porphyria, Congenital Erythropoietic	Osteopenia, Joint contracture of the hand, Elevated circulating uroporphyrin concentration, Patho...	OMIM:263700
Macular Dystrophy, Vitelliform, 3	Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula...	OMIM:608161
Neurocutaneous Melanocytosis	Chiari malformation, Infectious encephalitis, Hemiparesis, Aplasia/Hypoplasia of the cerebellum, ...	ORPHA:2481
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Inability to walk, Gait ataxia, Ataxia, High palate	OMIM:617915
Familial Isolated Hyperparathyroidism	Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Stickler Syndrome Type 2	Cataract, Retinal detachment, Corneal opacity	ORPHA:90654
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Developmental And Epileptic Encephalopathy 51	Cerebral cortical atrophy, Cerebellar atrophy, Supernumerary nipple, Inability to walk, Babinski ...	OMIM:617339
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cataract, Iris coloboma	OMIM:120433
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia	OMIM:618501
Beta-Thalassemia Intermedia	Osteopenia, Abnormality of iron homeostasis, Extramedullary hematopoiesis, Persistence of hemoglo...	ORPHA:231222
Amish Nemaline Myopathy	Progressive muscle weakness, Tremor, Respiratory insufficiency due to muscle weakness	ORPHA:98902
Retinitis Pigmentosa 9	Cataract, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:180104
Chromosome 2P16.1-P15 Deletion Syndrome	Spasticity, Hypoplasia of the pons, Postnatal growth retardation, Cryptorchidism, Epicanthus, Pro...	OMIM:612513
Hemochromatosis, Type 2B	Hepatic fibrosis, Cardiomyopathy, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly	OMIM:613313
Rafiq Syndrome	Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Downslanted pal...	OMIM:614202
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Spasticity, Cerebellar atrophy, Growth delay, Cerebral atrophy, Oculomotor...	OMIM:614678
Cone-Rod Dystrophy 13	Macular degeneration, Cone/cone-rod dystrophy	OMIM:608194
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Myoclon...	ORPHA:478029
Intellectual Developmental Disorder, Autosomal Dominant 26	Wide nasal bridge, Highly arched eyebrow, Short palpebral fissure, Depressed nasal bridge, Cerebr...	OMIM:615834
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration	OMIM:193230
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Reduced bone mineral density, ...	ORPHA:1508
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Finger syndactyly, Ovoid vertebral bodies, Cuboid-...	ORPHA:1517
Combined Oxidative Phosphorylation Deficiency 49	Difficulty walking, Progressive muscle weakness	OMIM:619024
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Scoliosis, Recurrent fractures	OMIM:615066
Distal Nebulin Myopathy	Progressive distal muscle weakness, Foot dorsiflexor weakness, Progressive proximal muscle weakne...	ORPHA:399103
Spinocerebellar Ataxia 10	Cerebellar atrophy, Dementia, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculations, Dysm...	OMIM:603516
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Cataract	ORPHA:2278
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ascites, Ovarian cyst, Enlarged polycystic ovaries, Increased circulati...	ORPHA:64739
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Hsd10 Mitochondrial Disease	Optic atrophy, Cerebral cortical atrophy, Elevated circulating tiglylglycine concentration, Retin...	OMIM:300438
Developmental And Epileptic Encephalopathy 67	Dystonia, Athetosis, Gait disturbance, Cerebellar atrophy	OMIM:618141
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos...	ORPHA:93352
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Organic aciduria, Leukodystrophy, Aspiration pneumonia, Renal tubular acidosi...	ORPHA:431361
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:620174
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Tip-toe gait, Proximal muscle weakness, Lower limb spasticity, Gait disturbance, Hyperlordosis, S...	OMIM:617404
Alexander Disease Type I	Spasticity, Cerebellar atrophy, Abnormal pyramidal sign, Ataxia, Scoliosis, Palatal tremor	ORPHA:363717
Dk1-Cdg	Abnormal circulating enzyme concentration or activity, Progressive muscle weakness, Short stature...	ORPHA:91131
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g...	ORPHA:785
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Optic atrophy, Mental deterioration, Cerebellar atrophy, Prolonged neonatal jaundice, Babinski si...	OMIM:618868
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Abnormal heart mor...	ORPHA:400
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Opisthotonus, Epicant...	OMIM:615851
Superficial Siderosis	Lower limb muscle weakness, Abnormal pyramidal sign, Cognitive impairment, Ataxia, Abnormal cereb...	ORPHA:247245
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:608540
Alg1-Cdg	Protein-losing enteropathy, Cerebellar atrophy, Decreased liver function, Cerebral atrophy, Renal...	ORPHA:79327
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Gait ataxia, Dysmetria, Attention deficit hyperactivity disorder, Ataxia, Opt...	OMIM:614306
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Ataxia, Hepatomegaly, Premature ovarian insufficiency, Nephrotic syndrome, Cer...	OMIM:212065
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Babinski sign, Atrophy of the spinal cord, Dem...	ORPHA:445062
Developmental Delay With Or Without Epilepsy	Spasticity, Cerebellar atrophy, Lower limb muscle weakness, Attention deficit hyperactivity disor...	OMIM:620540
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep...	OMIM:608709
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi...	OMIM:609270
Parkinsonism-Dystonia 3, Childhood-Onset	Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ...	OMIM:619738
Oxoglutaric Aciduria	Short stature, Abnormal salivary gland morphology, Abnormality of Krebs cycle metabolism	ORPHA:31
Xp21 Deletion Syndrome	Finger clinodactyly, Elevated circulating creatine kinase concentration, Joint hypermobility, Hyp...	ORPHA:261476
Acth-Independent Macronodular Adrenal Hyperplasia	Osteoporosis, Osteopenia, Kyphosis	OMIM:219080
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Nasu-Hakola Disease	Acute leukemia, Abnormal epiphysis morphology, Limitation of joint mobility, Bone cyst, Reduced b...	ORPHA:2770
Retinitis Pigmentosa 84	Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy	OMIM:618220
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Severe short stature, Sclerosis of skull base, Hip contracture, Knee flexion contr...	OMIM:313420
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Decreased retinol-binding protein level, Peripheral retinal atrophy, Retina...	OMIM:615147
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Hajdu-Cheney Syndrome	Osteopenia, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Kyph...	ORPHA:955
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Gen...	ORPHA:3206
Bacterial Toxic-Shock Syndrome	Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Renal insufficiency, My...	ORPHA:36234
Peutz-Jeghers Syndrome	Intestinal bleeding, Nasal polyposis, Uterine neoplasm, Bile duct polyp, Labial melanotic macule,...	OMIM:175200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Optic atrophy, Spasticity, Platyspondyly, Kyphosis, Mental deterioratio...	OMIM:618476
Familial Dysautonomia	Hyponatremia, Recurrent fractures, Scoliosis, Osteolysis	ORPHA:1764
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Narrow mouth, Kyphosis, Failure to thrive	OMIM:620007
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Pyloric stenosis	ORPHA:664
Bardet-Biedl Syndrome 17	Anosmia, Hypogonadism, Obesity, Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigme...	OMIM:615994
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy...	ORPHA:90796
Papillon-Lefèvre Syndrome	Arachnodactyly, Recurrent cutaneous abscess formation, Osteolysis, Liver abscess	ORPHA:678
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Hypoplastic iliac body, Disl...	OMIM:271640
Developmental And Epileptic Encephalopathy 95	Cerebral cortical atrophy, Highly arched eyebrow, Cerebellar atrophy, Hypoplasia of the pons, Cer...	OMIM:618143
Immunoneurologic Disorder, X-Linked	Spastic paraplegia, Progressive proximal muscle weakness, Functional abnormality of the bladder, ...	OMIM:300076
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteoporosis, Osteopenia, Kyphosis	OMIM:610475
Hartnup Disease	Neutral hyperaminoaciduria, Abnormal urinary color, Skin rash, Infectious encephalitis, Ataxia, S...	ORPHA:2116
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Highly arched eyebrow, Cerebellar atrophy, Downslanted palpebral fissures, Bilateral ptosis, Bulb...	ORPHA:329224
H Syndrome	Osteolysis, Microcytic anemia, Hepatosplenomegaly, Hallux valgus, Hypertriglyceridemia, Camptodac...	ORPHA:168569
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Osteoporosis, Neonatal hyperbilirubinemia, Clinodactyly of the 5th finger, Clinodactyly	ORPHA:73272
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Abnormal vertebral morphology, Wide nasal bridge, Cerebral atrophy, Agenesis of corpus callosum, ...	ORPHA:166024
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Mental deterioration, Memory impairment, Ketonuria, Methylmalonic aciduria, Cerebr...	ORPHA:79282
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Pontocerebellar Hypoplasia Type 10	Wide nasal bridge, Optic atrophy, Spasticity, Highly arched eyebrow, Underdeveloped nasal alae, L...	ORPHA:411493
Mixed Connective Tissue Disease	Leukopenia, Joint stiffness, Splenomegaly, Arthritis, Hemolytic anemia, Osteolysis	ORPHA:809
Neurodegeneration With Brain Iron Accumulation 5	Mental deterioration, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneratio...	OMIM:300894
Scrub Typhus	Renal insufficiency, Splenomegaly, Tremor, Skin rash, Infectious encephalitis, Myocarditis, Menin...	ORPHA:83317
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Developmental And Epileptic Encephalopathy 89	Wide nasal bridge, Highly arched eyebrow, Spasticity, Clitoral hypertrophy, Cerebellar atrophy, S...	OMIM:619124
East Syndrome	Cerebellar atrophy, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Lower li...	ORPHA:199343
Peroxisome Biogenesis Disorder 11B	Hepatosplenomegaly, Progressive muscle weakness, Muscle weakness	OMIM:614885
Classic Galactosemia	Osteoporosis, Abnormal erythrocyte enzyme concentration or activity, Reduced bone mineral density	ORPHA:79239
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short stature, Camptodactyly, Kyphosis	OMIM:618453
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen	OMIM:608895
Cdkl5-Deficiency Disorder	Growth delay, Impaired pain sensation, Difficulty walking, Gait disturbance, Poor head control, S...	ORPHA:505652
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ...	OMIM:614500
Distal Myopathy With Anterior Tibial Onset	Limb-girdle muscle weakness, Progressive proximal muscle weakness, Tibialis muscle weakness	ORPHA:178400
Congenital Myopathy 22A, Classic	Kyphosis, Hip contracture, Thoracic scoliosis, Achilles tendon contracture, Congenital finger fle...	OMIM:620351
Infantile Systemic Hyalinosis	Osteopenia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased susceptibility to f...	ORPHA:2176
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Decreased resp...	OMIM:307200
Stuve-Wiedemann Syndrome 1	Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc...	OMIM:601559
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Arthri...	OMIM:259100
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Sparse eyebrow, Cataple...	ORPHA:496641
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Babinski sign, Truncal ataxia, Progress...	ORPHA:101112
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li...	OMIM:256550
Retinitis Pigmentosa	Optic atrophy, Hypogonadism, Obesity, Attenuation of retinal blood vessels, Abnormality of retina...	ORPHA:791
Bardet-Biedl Syndrome 1	Rod-cone dystrophy, High palate, Retinal dystrophy, High, narrow palate, Decreased testicular siz...	OMIM:209900
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Recurrent infections, Optic atrophy, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy...	OMIM:618590
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Carious teeth, Open bite, Congenital pyloric atresia, Reduced bone mineral ...	ORPHA:2617
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Cerebellar atrophy, Recurrent respiratory infections, Underdeveloped nasal ala...	OMIM:193700
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Recurrent infections, Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, 3-Methylg...	OMIM:614739
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteoporosis, Osteopenia	OMIM:615830
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro...	OMIM:614575
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Cervical spinal canal stenosis, Cryptorchidism, Scheuermann-like vert...	OMIM:301900
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Wide nasal bridge, Inability to walk, Prominent nasal bridge, Tremor, Cerebellar hypoplasia, Atte...	OMIM:619556
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Episodic Ataxia Type 1	Cerebellar atrophy, Tip-toe gait, Kyphoscoliosis, Clumsiness, Hypertonia, Poor coordination, Scol...	ORPHA:37612
Blepharophimosis-Impaired Intellectual Development Syndrome	Chiari malformation, Hypoplasia of the pons, Cryptorchidism, Recurrent bronchitis, Sparse eyelash...	OMIM:619293
Zygomycosis	External ophthalmoplegia, Abnormal cranial nerve morphology, Ileitis, Pustule, Acute infectious p...	ORPHA:73263
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Ectopic anus, Polycystic ovaries	ORPHA:1643
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Joint stiffness, Leukopenia, Splenomegaly, Joint hy...	OMIM:620210
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus call...	ORPHA:300573
Myopathy, Myofibrillar, 4	Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak...	OMIM:609452
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Hip contracture, Osteolysis involving bones of the upper limbs, Thrombocytope...	ORPHA:464321
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Congenital Disorder Of Glycosylation, Type Id	Wide nasal bridge, Optic atrophy, Bifid uvula, Depressed nasal bridge, Cerebellar atrophy, Cerebr...	OMIM:601110
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Increased circulating lactate dehydrogenase concentration, Cerebral atrophy, ...	OMIM:619405
Charcot-Marie-Tooth Disease Type 1B	Somatic sensory dysfunction, Peripheral dysmyelination, Peripheral axonal neuropathy, Scoliosis, ...	ORPHA:101082
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Erdheim-Chester Disease	Abnormal epiphysis morphology, Osteomyelitis, Anemia, Increased bone mineral density, Abnormal me...	ORPHA:35687
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cerebral cortical atrophy, Choroidal neovascularization, Macular degeneration, Cryptorchidism	ORPHA:404451
Mitochondrial Neurogastrointestinal Encephalomyopathy	External ophthalmoplegia, Ophthalmoparesis, Elevated circulating hepatic transaminase concentrati...	ORPHA:298
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Splenomegaly, Oral ulcer, Weight loss, Elevated circulating C-react...	ORPHA:50918
Shashi-Pena Syndrome	Kyphosis, Cervical C2/C3 vertebral fusion, Osteoporosis, Scoliosis, Short metacarpal	OMIM:617190
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Recurrent fr...	OMIM:259440
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Optic atrophy, Cerebellar vermis hypoplasia, Broad columella, Recurrent respir...	OMIM:619383
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, Oculomotor a...	OMIM:604391
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Hypoplasia of the pons, Cryptorchidism, Opisthotonus, Epicanth...	OMIM:614969
Avian Influenza	Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increase...	ORPHA:454836
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Progressive muscle weakness, Tremor	OMIM:605355
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,...	OMIM:602390
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Gait imbalance, Gait ataxia, Intention tremor, Dysmetria, Urinary urgency, Ba...	ORPHA:98761
Neutral Lipid Storage Disease With Ichthyosis	Central nervous system degeneration, Elevated circulating hepatic transaminase concentration, Mic...	ORPHA:98907
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ...	ORPHA:98760
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Cholestasis, Obesity, Splenomegaly, Retinal degeneration, Orofacial cleft, Hepa...	OMIM:615630
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Villous atrop...	OMIM:608776
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Radioulnar synostosis, Broad distal phalanges of all fingers, D...	OMIM:245600
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Spinocerebellar Ataxia Type 13	Optic atrophy, Cerebellar atrophy, Difficulty walking, Limb ataxia, Gait ataxia, Myoclonus, Clums...	ORPHA:98768
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Platyspondyly, Dumbbell-shaped femur, Verte...	ORPHA:485
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Spasticity, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Babinski sig...	OMIM:612674
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Hepatomegaly, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral reflux, Remnants of the ...	OMIM:120200
Myopathy, Centronuclear, 2	Intrauterine growth retardation, High palate, Proximal muscle weakness, Axial muscle weakness, Op...	OMIM:255200
Slowed Nerve Conduction Velocity, Autosomal Dominant	Peripheral demyelination, Onion bulb formation	OMIM:608236
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Premature osteoa...	OMIM:130060
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Osteopenia, Cranial hyperostosis, Joint stiffness, Genu valgum, Hepatosplenomegaly...	ORPHA:309282
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia	ORPHA:100083
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb muscle weakness, 3-Methylglutac...	OMIM:619259
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatospleno...	OMIM:618935
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Episodic Ataxia, Type 6	Cerebellar atrophy, Episodic ataxia, Hemiplegia, Hemiparesis, Cerebellar hypoplasia, Truncal atax...	OMIM:612656
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili...	ORPHA:232
Bardet-Biedl Syndrome 9	Obesity, Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of...	OMIM:615986
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Camurati-Engelmann Disease, Type 2	Osteopenia, Hyperostosis, Hip contracture, Knee flexion contracture, Thoracolumbar scoliosis	OMIM:606631
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, Cr...	ORPHA:95699
Meningococcal Meningitis	Paresthesia, Renal insufficiency, Skin rash, Infectious encephalitis, Papilledema	ORPHA:33475
Brittle Cornea Syndrome	Abnormal epiphysis morphology, Increased susceptibility to fractures, Joint hypermobility, Arachn...	ORPHA:90354
Spinocerebellar Ataxia 44	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Shukla-Vernon Syndrome	Wide nasal base, Broad-based gait, Cerebellar atrophy, Downslanted palpebral fissures, Attention ...	OMIM:301029
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Inability to walk, Limb ataxia, Gait disturbance, Ataxia, Optic disc pallor	OMIM:617166
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Depressed nasal bridge, Cerebellar atrophy, Sparse lateral eyebrow, Downslanted palpebral fissure...	OMIM:619103
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Decreased circulating IgA level, Splenomegaly, Elevated circulating creatine kinase c...	OMIM:613327
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polypos...	OMIM:617100
Behçet Disease	Hemiparesis, Abnormal pyramidal sign, Ataxia, Meningitis, Endocarditis, Memory impairment, Renal ...	ORPHA:117
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Flexio...	ORPHA:88630
Masa Syndrome	Spastic paraplegia, Shuffling gait, Paraplegia, Agenesis of corpus callosum, Lower limb spasticit...	OMIM:303350
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Bulging epiphyses, Osteomalacia...	ORPHA:1652
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Joint hypermobility, Osteoporosis, Scoliosis, Kyphosis	OMIM:619718
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Intestinal obstruction, Lymphadenopathy, Abnormal p...	ORPHA:26790
X-Linked Charcot-Marie-Tooth Disease Type 4	Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Distal muscle weakness, Scoliosis, Kyp...	ORPHA:101078
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:79084
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemiplegia, Splenomegaly, Infectious encephalitis, Tetraplegia, Hypertonia, Ataxia, Hepatomegaly,...	OMIM:267700
Nail-Patella Syndrome	Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell...	ORPHA:2614
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Glycogen Storage Disease Due To Acid Maltase Deficiency	Lower limb muscle weakness, Difficulty walking, Motor axonal neuropathy, Generalized muscle weakn...	ORPHA:365
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Decreased liv...	ORPHA:540
Weismann-Netter Syndrome	Severe short stature, Delayed eruption of permanent teeth, Horizontal sacrum, Calvarial hyperosto...	OMIM:112350
Slc35A2-Cdg	Precocious puberty, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, ...	ORPHA:356961
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Spastic Paraplegia 51, Autosomal Recessive	Wide nasal bridge, Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy,...	OMIM:613744
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Epicanthus, Prominent nasal tip, Blepharophim...	ORPHA:261349
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Immunodeficiency 37	Colitis, Recurrent infections, Infectious encephalitis	OMIM:616098
Amish Lethal Microcephaly	Osteoporosis, Limitation of joint mobility, Decreased skull ossification	ORPHA:99742
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Cortical irregularity, Anterior concavity of thoracic vertebrae, K...	OMIM:249420
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Abetalipoproteinemia	Fat malabsorption, Retinopathy, Abetalipoproteinemia, Retinal degeneration	OMIM:200100
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Wide nasal base, Cerebral cortical atrophy, Short palpebral fissure, Broad nasal tip, Cerebellar ...	OMIM:617763
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Myasthenic Syndrome, Congenital, 25, Presynaptic	Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Mental deterioration, Involuntary movements, Cerebellar atrophy, Intestinal pseudo-obstruction, M...	OMIM:619780
Lissencephaly 6 With Microcephaly	Spasticity, Cerebellar atrophy, Bulbous nose, Anteverted nares, Almond-shaped palpebral fissure, ...	OMIM:616212
Mitochondrial Dna Depletion Syndrome 17	Hepatic failure, Cerebellar atrophy, Cerebral atrophy, Chorea, Spastic tetraparesis, Hemiballismus	OMIM:618567
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Hyperalaninemia, Failure to thrive, Retinal degeneration	OMIM:620646
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Memory impairment, Resting tremor, Dementia, Akinesia, Gait ataxia, I...	ORPHA:247234
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flared nostrils, Wide nasal bridge, Cerebral atrophy, Episodic ataxia, Anteverted nares, Myoclonu...	OMIM:312170
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ...	ORPHA:2658
Intellectual Developmental Disorder, Autosomal Recessive 79	Wide nasal bridge, Broad-based gait, Broad nasal tip, Eczematoid dermatitis, Incoordination, Gait...	OMIM:620393
Spinocerebellar Ataxia 6	Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of...	OMIM:183086
Cog8-Cdg	Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Cerebellar a...	ORPHA:95428
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis,...	ORPHA:99014
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Failure to thrive, Cerebral atrophy, Retinal degeneration, Hypodontia, Brain atrophy	ORPHA:442835
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Polyclonal elevation of IgM, Elevated circula...	ORPHA:355
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Knee flexion cont...	OMIM:600175
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Scoliosis, Reduced bone mineral density	ORPHA:466926
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Intrauterine growth retardation, Viral encephalitis	OMIM:619441
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Downslanted palpebral fissures, Cerebellar vermis atrophy, Anteverted nares, Li...	OMIM:617101
Alpha-Mannosidosis, Adult Form	Pneumonia, Cerebral cortical atrophy, Macroglossia, Cerebellar atrophy, Oligosacchariduria, Confu...	ORPHA:309288
Baralle-Macken Syndrome	High, narrow palate, Spasticity, Global brain atrophy, Inability to walk, Upslanted palpebral fis...	OMIM:619255
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Truncal obesity, Short philtru...	ORPHA:2429
Werner Syndrome	Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density, Hypertriglyceridemia	OMIM:277700
Glutaric Acidemia I	Glutaric aciduria, Ketonuria, Lateral ventricle dilatation, Symmetrical progressive peripheral de...	OMIM:231670
Gerstmann-Straussler Disease	Spasticity, Memory impairment, Cerebellar atrophy, Lower limb muscle weakness, Limb ataxia, Gait ...	OMIM:137440
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Narrow nose, Intrauterine growth retardat...	OMIM:618891
Short Stature-Micrognathia Syndrome	Small scrotum, Rhizomelia, Cerebellar atrophy, Downslanted palpebral fissures, Intrauterine growt...	OMIM:617164
Gaucher Disease Type 3	Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Increased circulating antibody...	ORPHA:77261
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Distal sensory impairment, Dysmetria, Peripheral axonal neuropathy, Oculomoto...	OMIM:615217
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Congenital Erythropoietic Porphyria	Osteopenia, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Abnormal circulat...	ORPHA:79277
Microphthalmia-Brain Atrophy Syndrome	Spasticity, Lateral ventricle dilatation, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Di...	ORPHA:77299
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Sarcoidosis	Parotitis, Enlargement of parotid gland, Portal hypertension, Abnormal reproductive system morpho...	ORPHA:797
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Wide nasal bridge, Cerebellar vermis hypoplasia, Spasticity, Highly arched eyebrow, Ketonuria, An...	OMIM:220111
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Congenital Myopathy 8	Cardiomegaly, High palate	OMIM:618654
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li...	ORPHA:99956
Leber Congenital Amaurosis 1	Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen, Hepatomegaly	OMIM:204000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Kyphoscoliosis, Long fingers, Thin bony cortex, Osteoporosis, Vertebral compression ...	OMIM:309583
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
4Q21 Microdeletion Syndrome	Depressed nasal bridge, Growth delay, Long eyelashes, Intrauterine growth retardation, Tremor, Ag...	ORPHA:238750
Lathosterolosis	2-3 toe cutaneous syndactyly, Elevated circulating lathosterol concentration, Postaxial foot poly...	OMIM:607330
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Abnorm...	ORPHA:168491
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
X Small Rings	Toe syndactyly, Upper limb undergrowth, Clinodactyly of the 5th finger, Lower limb undergrowth, J...	ORPHA:96201
Developmental And Epileptic Encephalopathy 5	Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Atrophy/Deg...	OMIM:613477
Combined Oxidative Phosphorylation Defect Type 27	Upper limb postural tremor, Diffuse cerebellar atrophy, Involuntary movements, Tetraparesis, Diff...	ORPHA:477774
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Episodic Ataxia Type 6	Cerebellar atrophy, Hemiplegia, Slurred speech, Ataxia	ORPHA:209967
Ataxia With Vitamin E Deficiency	Short term memory impairment, Cerebellar atrophy, Xanthelasma, Positive Romberg sign, Dysmetria, ...	OMIM:277460
Lissencephaly Syndrome, Norman-Roberts Type	Wide nasal bridge, Cerebellar atrophy, Intrauterine growth retardation, Agenesis of corpus callos...	ORPHA:89844
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Nephrocalcinosis, Hydroureter, Cerebellar atrophy, Ureteral stenosis, Cer...	OMIM:615398
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dysplasia of the femoral head, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones, B...	ORPHA:536467
Developmental And Epileptic Encephalopathy 48	Cerebellar atrophy, Cerebral atrophy, Long eyelashes, Long palpebral fissure, Limb hypertonia, Op...	OMIM:617276
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Cerebral atrophy, Limb hypertonia, Lacticaciduria, Dystonia, Choreoathetosis	OMIM:618247
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ...	ORPHA:424019
Q Fever	Pneumonia, Unusual infection, Elevated circulating hepatic transaminase concentration, Hepatitis,...	ORPHA:781
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Increased circulating ferritin concentration, Joint stiffness, S...	ORPHA:465508
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Optic atrophy, Proximal tubulopathy, Cerebellar atrophy, Elevated gamm...	OMIM:614576
Linear Verrucous Nevus Syndrome	Toe syndactyly, Hypophosphatemia, Scoliosis, Reduced bone mineral density, Short metacarpal	ORPHA:2611
Combined Oxidative Phosphorylation Deficiency 27	Cerebral cortical atrophy, Mental deterioration, Global brain atrophy, Cerebellar atrophy, Cerebr...	OMIM:616672
Igg4-Related Thyroid Disease	Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholan...	ORPHA:64744
Cerebrotendinous Xanthomatosis	Spasticity, Cholelithiasis, Cerebellar atrophy, Lower limb muscle weakness, Pseudobulbar paralysi...	OMIM:213700
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Action tremor, Lingual dystonia, Hepatomegaly, Optic disc pallor, Abnormal myelination, Generaliz...	ORPHA:404454
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bone marrow hypocellularity, Pathologic fracture, Metaphyseal sclerosis, Genu valgum,...	OMIM:612199
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Micro Syndrome	Wide nasal bridge, Optic atrophy, Spasticity, Cerebellar vermis hypoplasia, Cerebral cortical atr...	ORPHA:2510
Distal Deletion 10Q	Spasticity, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Postnatal growth...	ORPHA:96148
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Senior-Loken Syndrome 9	Hepatic fibrosis, Macular degeneration, Cholestasis, Hypogonadism, Obesity, Rod-cone dystrophy, R...	OMIM:616629
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Cryptorchidism, Micropenis, Cognitive impairment, Ataxia, Long nose, Ectopic ki...	OMIM:616541
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Increased susceptibility to fra...	ORPHA:98849
Sjogren-Larsson Syndrome	Macular degeneration, Retinal thinning, Macular dots, Enamel hypoplasia, Retinal pigment epitheli...	OMIM:270200
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cerebral cortical atrophy, Broad columella, Underdeveloped nasal alae, Abnormality of pattern vis...	ORPHA:166035
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Wieacker-Wolff Syndrome	Spasticity, Scoliosis, Cerebral atrophy, Anteverted nares, Upslanted palpebral fissure, Dystonia,...	OMIM:314580
Retinitis Pigmentosa 51	Macular degeneration, Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of...	OMIM:613464
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Cerebral atrophy, Neurogenic bladder, Atrophy/Degeneration affecting the brai...	OMIM:613612
Developmental And Epileptic Encephalopathy 93	Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait...	OMIM:618012
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Cataract, Renal insufficiency, Cardiomegaly, Hydronephrosis, Long-chain dicarboxylic aciduria, He...	OMIM:608836
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal upper limb muscle weakness, Gait ataxia, Foot dorsiflexor weakness, Distal lower limb musc...	ORPHA:90103
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract	OMIM:610156
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Clitoral hypertrophy, Cholestasis, Hepatosplenomegaly, ...	OMIM:614866
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation i...	ORPHA:320406
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Mental deterioration, Falls, Cerebellar atrophy, Progressive spastic paraplegia, P...	ORPHA:329308
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis, Abnormal cartilage morphology	ORPHA:2396
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal pericardium morphology, Abnormal esophagus morphology, Abno...	ORPHA:2357
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Spasticity, CNS hypomyelination, Cerebellar atrophy, Facial diplegia, Neonatal dea...	OMIM:618186
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Microgastria, Gastroesophageal reflux, Horseshoe kidney, Intestinal...	ORPHA:2538
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Osteoporosis, Reduced bone mineral density, Recurrent fractures	ORPHA:2235
Intellectual Developmental Disorder, Autosomal Dominant 23	Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Bulbous nose, Antevert...	OMIM:615761
Congenital Disorder Of Glycosylation, Type Iie	Protruding tongue, Short neck, Elevated circulating alanine aminotransferase concentration, Hepat...	OMIM:608779
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia	OMIM:614229
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Splenomegaly, Foll...	OMIM:603909
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Cerebellar atrophy, Cerebral atrophy, Postnatal growth retardation, Splenomega...	OMIM:620603
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
3-Methylglutaconic Aciduria, Type Viib	Recurrent infections, Spasticity, Recurrent pneumonia, Cerebellar atrophy, Rhizomelia, Cerebral a...	OMIM:616271
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Severe viral infection, Skin ...	ORPHA:319251
Pituitary Adenoma 4, Acth-Secreting	Biconcave vertebral bodies, Hypokalemia, Osteoporosis, Vertebral compression fracture, Kyphosis	OMIM:219090
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Developmental And Epileptic Encephalopathy 99	Frontotemporal cerebral atrophy, Cerebellar atrophy, Delayed CNS myelination, Atrophy/Degeneratio...	OMIM:619606
Reynolds Syndrome	Xerostomia, Abnormal gastric mucosa morphology, Skin rash, Infectious encephalitis, Cirrhosis, Ke...	ORPHA:779
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Endocard...	ORPHA:2552
Distal Deletion 10P	Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Hypoplasia of penis, Cleft palate	ORPHA:1580
Cone-Rod Dystrophy 15	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:613660
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis	ORPHA:101075
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Spasticity, Elevated urine acetoacetic acid level, Cerebellar vermis hypoplasia, A...	OMIM:620089
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Dental malocclusion, Broad columella, Diastema, Underdevel...	ORPHA:436245
Dietary Iron Overload Disease	Osteoporosis, Elevated transferrin saturation, Elevated hepatic iron concentration, Increased cir...	ORPHA:139507
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Persistent Hyperplastic Primary Vitreous	Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme...	ORPHA:91495
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Spasticity, Impaired pain sensation, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Ab...	ORPHA:500180
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Wide nasal bridge, Cerebellar atrophy, Cerebral atrophy, Downslanted palpebral fissures, Enlarged...	OMIM:616266
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Hepatosplenomegaly	OMIM:273680
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Flat face, Bifid uvula, Hypoplasia of the odontoid process, Atlantoaxial instabili...	OMIM:183900
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteoporosis, Osteopenia, Kyphosis	OMIM:610489
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Wide nasal bridge, Depressed nasal bridge, CNS hypomyelination, Cerebral atrophy, Cerebellar verm...	OMIM:615760
Autosomal Dominant Progressive External Ophthalmoplegia	External ophthalmoplegia, Resting tremor, Limb muscle weakness, Ophthalmoplegia, Peripheral axona...	ORPHA:254892
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr...	OMIM:620366
Oculodentodigital Dysplasia	Toe syndactyly, Finger syndactyly, Cranial hyperostosis, Clinodactyly, Preaxial hand polydactyly,...	ORPHA:2710
Cockayne Syndrome B	Postnatal growth retardation, Cryptorchidism, Micropenis, Ataxia, Hepatomegaly, Cerebral atrophy,...	OMIM:133540
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Spasticity, Cerebellar atrophy, Narrow nasal bridge, Hypertonia, Delayed myelination, Scoliosis, ...	ORPHA:544503
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Mixed demyelinating and axonal polyneuropathy, Cerebral atrophy, Generalized ...	ORPHA:412217
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Avascular necrosis of the capital femor...	OMIM:613990
3-Methylglutaconic Aciduria Type 7	Spasticity, Nephrocalcinosis, Cerebellar atrophy, Elevated circulating hepatic transaminase conce...	ORPHA:445038
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy...	OMIM:618886
Rhizomelic Chondrodysplasia Punctata	Flat face, Rhizomelia, Abnormality of the dentition, Growth delay, Limitation of joint mobility, ...	ORPHA:177
Familial Or Sporadic Hemiplegic Migraine	Tongue fasciculations, Involuntary movements, Distal upper limb muscle weakness, Spontaneous pain...	ORPHA:569
Bethlem Myopathy 2	Distal joint hypermobility, Scoliosis, Kyphosis, Flexion contracture	OMIM:616471
Jacobsen Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Short neck...	ORPHA:2308
Hepatoerythropoietic Porphyria	Osteopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Splenomegaly, Os...	ORPHA:95159
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral cortical atrophy, Cerebellar atrophy, Growth delay, Cerebral atrophy, Opisthotonus, Corp...	OMIM:619272
Intellectual Developmental Disorder, Autosomal Recessive 5	Wide nasal bridge, Spasticity, Broad-based gait, Increased circulating lactate dehydrogenase conc...	OMIM:611091
Wieacker-Wolff Syndrome, Female-Restricted	Spasticity, Kyphosis, Inability to walk, Anteverted nares, Short neck, Oculomotor apraxia, Facial...	OMIM:301041
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Cerebral atrophy, Long philtrum, Anteverted nares, Retinal degeneration	OMIM:616211
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Thick eyebrow, Hyperkinetic movements, Ophthalmoplegia, Neuronal loss in cent...	OMIM:300243
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Progressive spastic paraplegia, Distal lower limb muscle weakness, Babinski s...	OMIM:612020
Choroidal Atrophy-Alopecia Syndrome	Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation, Supernumer...	ORPHA:1433
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ataxia, Hepatic fibrosis, Cerebellar atrophy, Exocrine pancreatic insufficiency, Postnatal growth...	OMIM:616263
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens	ORPHA:1381
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Dentinogenesis ...	OMIM:616294
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A...	ORPHA:199310
Primary Ciliary Dyskinesia	Nasal polyposis, Polysplenia, Nasal congestion, Intestinal malrotation, Chronic rhinitis, Rod-con...	ORPHA:244
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Myocarditis, Hep...	ORPHA:3386
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Postnatal growth retardation, Cryptorchidism, Agenesis of ...	OMIM:248700
Cone Dystrophy 3	Macular atrophy, Cone/cone-rod dystrophy	OMIM:602093
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytop...	OMIM:613989
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, In...	ORPHA:160
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Recurrent ...	OMIM:610915
Amyloidosis, Finnish Type	Cataract, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, ...	OMIM:105120
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Depressed nasal bridge, Epicanthus, Short stature, Scoliosis, Kyphosis	OMIM:300434
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegen...	OMIM:610217
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Wide nasal base, Macroglossia, Broad-based gait, Spasticity, Short palpebral fissure, Oligosaccha...	ORPHA:397709
Cockayne Syndrome	Mental deterioration, Spasticity, Difficulty walking, Postnatal growth retardation, Action tremor...	ORPHA:191
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Inflammation of the large intestine, Bronchiectasis, CNS hypomyelination, Hypoplas...	OMIM:619708
Hypobetalipoproteinemia, Familial, 1	Hypocholesterolemia, Hypertriglyceridemia, Retinal degeneration, Decreased LDL cholesterol concen...	OMIM:615558
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cerebellar vermis hypoplasia, Spasticity, Eversion of lateral third of lower ...	ORPHA:364028
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Radio-Tartaglia Syndrome	Agenesis of corpus callosum, Epicanthus, Prominent nasal tip, Narrow palpebral fissure, Ataxia, L...	OMIM:619312
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Attrv30M Amyloidosis	Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	ORPHA:85447
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l...	OMIM:618598
Ovarian Fibroma	Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteri...	ORPHA:314473
Mcdonough Syndrome	Dental malocclusion, Open bite, Cryptorchidism, Abnormal palate morphology, Cachexia, Short statu...	ORPHA:2471
Osteogenesis Imperfecta, Type Xi	Osteopenia, Dentinogenesis imperfecta, Vertebral wedging, Increased susceptibility to fractures, ...	OMIM:610968
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors...	ORPHA:3097
Harderoporphyria	Increased fecal harderoporphyrin, Increased urinary porphobilinogen, Splenomegaly, Red urine, Ret...	OMIM:618892
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Webbed neck, Kyphosis, Prominent nasal bridge, Cryptorchidism, Axial muscle weakness, Short neck,...	ORPHA:178148
X-Linked Intellectual Disability, Najm Type	Wide nasal bridge, Optic atrophy, Spasticity, Cerebral cortical atrophy, Rigidity, Cerebellar hyp...	ORPHA:163937
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix	ORPHA:75234
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Cryptorchidism, Tremor, Pontocerebellar atrophy, Hydronephrosis, Cerebellar hypop...	OMIM:618060
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Depressed nasal bridge, Cerebellar atrophy, Cerebral atrophy, Limb dystonia, Gliosis, Neuronal lo...	OMIM:604377
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ...	OMIM:300635
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Optic atrophy, Nephritis, Splenomegaly, Proteinuria, Hepatome...	OMIM:617303
Complement Component 8 Deficiency, Type I	Meningitis	OMIM:613790
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Platyspondyly, Thoracolumbar kyphosis, Small for gestational age...	ORPHA:93360
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Ataxia, Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Dysmetria, Hyperech...	ORPHA:456312
Intellectual Developmental Disorder, X-Linked, Syndromic 35	2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Contracture of the proximal interphal...	OMIM:300998
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Cerebellar atrophy, Bulbous nose, Hydron...	OMIM:620511
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Stt3B-Cdg	Small scrotum, Optic atrophy, Cerebellar atrophy, Intrauterine growth retardation, Cryptorchidism...	ORPHA:370924
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Splenomegaly,...	OMIM:616100
Congenital Disorder Of Glycosylation, Type Ix	Small scrotum, Optic atrophy, Cerebellar atrophy, Intrauterine growth retardation, Cryptorchidism...	OMIM:615597
Congenital Fiber-Type Disproportion Myopathy	Weakness of muscles of respiration, Recurrent respiratory infections, Shoulder girdle muscle weak...	ORPHA:2020
Perrault Syndrome 4	Osteoporosis	OMIM:615300
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Congenital Enterovirus Infection	Hepatic failure, Hepatitis, Cholestasis, Skin rash, Infectious encephalitis, Myocarditis, Meningitis	ORPHA:292
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Short distal phalanx of finger, Elbow flexion contracture, Joint stiffness, Hyperlipi...	OMIM:248370
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Macular degeneration, Abnormal dental enamel morphology, Ret...	ORPHA:816
Aromatase Deficiency	Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Hepatic steatosis, Enl...	ORPHA:91
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Elbow flexion contracture, Osteoporosis, Flexion contracture, Hip dislocation	OMIM:614438
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Abdominal situs ambiguus, Chronic rhinitis	OMIM:617092
Joubert Syndrome 37	Wide nasal bridge, Cerebellar vermis hypoplasia, Decreased testicular size, Lumbar hyperlordosis,...	OMIM:619185
Chromosome 3Pter-P25 Deletion Syndrome	Spasticity, Postnatal growth retardation, Cryptorchidism, Epicanthus, Blepharophimosis, Anal atre...	OMIM:613792
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence ...	ORPHA:231226
Zimmermann-Laband Syndrome 3	Wide nasal bridge, Bifid uvula, Broad nasal tip, Long eyelashes, Thick eyebrow, High palate, Kyph...	OMIM:618658
Cowden Syndrome	Abnormal penis morphology, Abnormality of the uterus, Goiter, Furrowed tongue, Endometrial carcin...	ORPHA:201
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Familial Pancreatic Carcinoma	Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic...	ORPHA:1333
Bohring-Opitz Syndrome	Recurrent infections, Wide nasal bridge, Depressed nasal bridge, Supernumerary nipple, Intestinal...	OMIM:605039
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cerebellar vermis hypoplasia, Short palpebral fissure, Wide nasal bridge, Dep...	OMIM:620073
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Ankle flexion contracture, Joint contracture of the hand, Congenital contrac...	ORPHA:536516
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Tongue fasciculations, Foot osteomyelitis, Hand tremor, Osteomyelitis, Distal sensory impairment,...	OMIM:162400
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Cerebellar atrophy, Oculomotor apraxia, Abnormal pyramidal sign, Te...	OMIM:616267
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome	OMIM:105200
Oguchi Disease	Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness	ORPHA:75382
Bruck Syndrome 2	Platyspondyly, Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to...	OMIM:609220
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Wide nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Anteverted nares, Short...	OMIM:618342
Spinocerebellar Ataxia 4	Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel...	OMIM:600223
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Ptosis, Spina bifi...	OMIM:616602
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Speech apraxia, Cryptorchidism, Ataxia, Pain insensitivity, Cerebellar vermis h...	OMIM:617330
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Babinski sign, Cognitive impairment, Atrophy/D...	OMIM:616192
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Optic atrophy, Depressed nasal bridge, Elevated circulating hepatic transami...	OMIM:608799
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia	OMIM:608022
3C Syndrome	Postnatal growth retardation, Short neck, Anal atresia, Hypospadias, Short nose, High, narrow pal...	ORPHA:7
Gaucher Disease Type 2	Hepatomegaly, Dysphagia, Splenomegaly	ORPHA:77260
O'Donnell-Luria-Rodan Syndrome	Downslanted palpebral fissures, Cryptorchidism, Prolonged neonatal jaundice, Delayed myelination,...	OMIM:618512
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Fasciculati...	OMIM:620327
Mitochondrial Dna-Associated Leigh Syndrome	Ophthalmoparesis, Spasticity, Optic atrophy, Hepatic failure, Chorea, Gait ataxia, Abnormality of...	ORPHA:255210
Autosomal Recessive Spastic Paraplegia Type 39	Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Motor axonal neuropathy, Babinski sign, Lowe...	ORPHA:139480
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Episodic ataxia, Hemiplegia, Confusion, Gait ataxia, Dysmetria, Hemiparesis, ...	OMIM:602481
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Slender long bone, Tibial bowing, Flexion contracture of finger, ...	OMIM:601812
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T...	OMIM:618056
Joubert Syndrome 3	Wide nasal bridge, Cerebellar vermis hypoplasia, Highly arched eyebrow, Nephronophthisis, Lateral...	OMIM:608629
Wiedemann-Steiner Syndrome	Broad-based gait, Recurrent otitis media, Postnatal growth retardation, Cryptorchidism, Epicanthu...	OMIM:605130
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Short sperm flagella, Recurrent sinusitis, Coiled sperm flagella	OMIM:620197
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology, ...	ORPHA:54251
Sialidosis Type 1	Aminoaciduria, Wide nasal bridge, Abnormal form of the vertebral bodies, Urinary excretion of sia...	ORPHA:812
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Enteroviral dermatomyositis syndrome, Recurrent otitis media...	OMIM:300755
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Genu valgum, Reduced bone mineral density, Kyphosis	ORPHA:2983
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, Short neck, Camptodactyly, High palate, Arthrogryposis multiplex congenita, Kyphosis	OMIM:618393
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Hypertonia, Dystonia	OMIM:614654
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Narrow palate, Downslanted palpebral fissures, Chorea, Cryptorchidism, Agenesi...	OMIM:619435
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepa...	ORPHA:1655
Hypophosphatemic Bone Disease	Bowing of the legs, Hypophosphatemia, Rickets, Osteomalacia	OMIM:146350
Chromosome 3Q13.31 Deletion Syndrome	Downslanted palpebral fissures, Decreased testicular size, Cryptorchidism, Agenesis of corpus cal...	OMIM:615433
Leber Congenital Amaurosis 8	Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Macular coloboma	OMIM:613835
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Van Esch-O'Driscoll Syndrome	Spasticity, Short nose, Short palpebral fissure, Cerebral atrophy, Hypogonadotropic hypogonadism,...	OMIM:301030
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Abnormal cartilage matrix, Arthrogryposis m...	ORPHA:86822
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Developmental And Epileptic Encephalopathy 65	Highly arched eyebrow, Spasticity, Cerebellar atrophy, Cerebral atrophy	OMIM:618008
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Recurrent infection of the gastrointestinal tract, Absence of lymph ...	OMIM:608184
Choreoacanthocytosis	Mental deterioration, Resting tremor, Lateral ventricle dilatation, Limb dystonia, Protruding ton...	ORPHA:2388
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus...	OMIM:614898
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis...	OMIM:221900
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Impotence, Memory impairment, Urinary blad...	ORPHA:93256
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Severe short stature, Hypoplasia of the odontoid process, Caudal ap...	OMIM:156530
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Spasticity, Hypoplasia of the pons, Cryptorchidism, Agenesis of corpus callosum, Abnormal pyramid...	ORPHA:468631
15Q24 Microdeletion Syndrome	Abnormality of the dentition, Kyphosis, Failure to thrive, Long philtrum, Thick lower lip vermili...	ORPHA:94065
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Dystonia, Corpus callosum atrophy, Limb hype...	OMIM:616875
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Optic atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination, Dec...	OMIM:618437
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo...	ORPHA:536471
Hsd10 Disease, Infantile Type	Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Hyperammonem...	ORPHA:391428
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Aceruloplasminemia	Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferritin conc...	OMIM:604290
Coccidioidomycosis	Granuloma, Osteomyelitis, Abnormality of the spleen, Abnormal long bone morphology, Abscess, Eosi...	ORPHA:228123
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral atrophy, Po...	OMIM:268020
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Pontocerebellar Hypoplasia, Type 2B	Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cerebella...	OMIM:612389
Occipital Horn Syndrome	Platyspondyly, Decreased circulating ceruloplasmin concentration, Genu valgum, Limited elbow exte...	OMIM:304150
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Dental malocclusion, Increased circulating IgE level, Short stature...	ORPHA:1858
Osteogenesis Imperfecta	Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull ossification...	ORPHA:666
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Th...	OMIM:231095
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal...	ORPHA:98773
Joubert Syndrome 30	Cerebellar atrophy, Agenesis of corpus callosum, Ptosis, Superior cerebellar dysplasia, Dandy-Wal...	OMIM:617622
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypoplastic anterior commissure, Hypoplasia of the pons, Cryptorchidism, Epicanthus, Delayed CNS ...	OMIM:616975
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Elbow flexion contracture, Thoracic kyphoscoliosis, Thoracic scoliosis, Congenital bi...	ORPHA:1900
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur...	ORPHA:157215
Dysostosis, Stanescu Type	Flat face, Abnormality of the dentition, Carious teeth, Macroglossia, Massively thickened long bo...	ORPHA:1798
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flared nostrils, Postnatal growth retardation, Hypospadias, Sparse eyebrow, Downslanted palpebral...	ORPHA:487796
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Macs Syndrome	Osteoporosis, Scoliosis, Brachydactyly, Joint hypermobility	OMIM:613075
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Ataxia-Telangiectasia	Lymphopenia, Aplasia/Hypoplasia of the thymus, Abnormal testis morphology, Polycystic ovaries	ORPHA:100
Hajdu-Cheney Syndrome	Osteopenia, Foot acroosteolysis, Tall lumbar vertebral bodies, Pathologic fracture, Genu valgum, ...	OMIM:102500
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Hypoplastic pelvis, Polydactyly, Cuboid-shaped vertebral bodies, T...	OMIM:612731
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, CN...	ORPHA:221091
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	CNS hypomyelination, Cerebellar atrophy, Inability to walk, Gait ataxia, Short attention span, Pr...	OMIM:619580
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618495
Kleefstra Syndrome 2	Bifid uvula, Growth delay, Everted lower lip vermilion, Scoliosis, Kyphosis	OMIM:617768
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Hypophosphatemia, Tooth absc...	ORPHA:89936
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open b...	ORPHA:61
Melioidosis	Hepatitis, Parotitis, Abnormality of the spleen, Prostatitis, Splenic abscess, Abnormal parotid g...	ORPHA:31202
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Wide nasal bridge, Small scrotum, Optic atrophy, Thick eyebrow, Cryptorchidism, Hemiplegia/hemipa...	ORPHA:1970
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Increa...	OMIM:614946
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Growth delay, Intrauterine growth retardation, Reduced renal corticomedullary...	OMIM:618541
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere...	OMIM:608768
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Bainbridge-Ropers Syndrome	Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Supernumerary nipple, Crypto...	OMIM:615485
Atypical Rett Syndrome	Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ...	ORPHA:3095
Cysticercosis	Mental deterioration, Memory impairment, Somatic sensory dysfunction, Abnormality of the vertebra...	ORPHA:1560
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial ...	ORPHA:420492
Celiac Disease, Susceptibility To, 1	Rickets, Decreased circulating IgA level, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia...	OMIM:212750
Leber Congenital Amaurosis 4	Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy	OMIM:604393
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebral cortical atrophy, Spasticity, Hepatic failure, Cerebellar atrophy, Micronodular cirrhosi...	OMIM:301072
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Short clavicles, Acroosteolysis of distal phalanges (feet), Osteolytic defects of...	OMIM:608612
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Fibrosis Of Extraocular Muscles, Congenital, 3C	Highly arched eyebrow, Congenital fibrosis of extraocular muscles, Congenital bilateral ptosis, R...	OMIM:609384
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Hip contracture, Knee flexion contracture, Vertebral compression fract...	OMIM:620232
Prader-Willi Syndrome	Osteopenia, Small hand, Clinodactyly, Radial deviation of finger, Decreased HDL cholesterol conce...	OMIM:176270
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Short distal phalanx of finger, Microcytic anemia, Multiple joint contractures, Thora...	ORPHA:2959
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal...	ORPHA:848
Cleidocranial Dysplasia 2	Osteopenia, Short distal phalanx of finger, Broad thumb, Aplastic clavicle, Genu valgum, Delayed ...	OMIM:620099
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Wide nasal bridge, Cryptorchidism, Agenesis of corpus callosum, Cerebellar hypoplasia, Babinski s...	OMIM:620316
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Wide nasal bridge, Webbed neck, Highly arched eyebrow, Depressed nasal bridge, Intestinal malrota...	OMIM:618316
Spondyloocular Syndrome	Platyspondyly, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Long finger...	OMIM:605822
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Depressed nasal bridge, Recurrent upper respiratory tract infections, Elevated circulating hepati...	ORPHA:293987
Beta-Thalassemia Major	Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence ...	ORPHA:231214
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration	ORPHA:370022
Mucopolysaccharidosis, Type Iiid	Depressed nasal bridge, Recurrent upper respiratory tract infections, Cerebellar atrophy, Difficu...	OMIM:252940
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Diffuse cerebellar atrophy, Limb ataxia, Motor axonal neuropathy, Progressive gait ataxia, Abnorm...	ORPHA:247815
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Stickler Syndrome, Type V	Cataract, Retinal detachment	OMIM:614284
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Bilateral cryptorchidism, Decreased response to growth...	ORPHA:96179
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Lumbar hyperlordosis, Joint stiffness, Brachydactyly, Thin bony cort...	OMIM:277600
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia	OMIM:615415
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
Lowry-Maclean Syndrome	Osteoporosis, Osteopenia, Craniosynostosis	ORPHA:2409
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Delayed puberty, High palate, Scoliosis, Kyphosis	ORPHA:2598
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Abnormal intestine morphology, Eczemato...	ORPHA:391487
Cadds	Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cholestasis, Intraut...	ORPHA:369942
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Widely-spaced maxillary central incisors, Thick lower lip vermi...	OMIM:300602
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Granulomatosis With Polyangiitis	Nasal mucosa vasculitis, Oral ulcer, Weight loss, Retinal hemorrhage, Concave nasal ridge	OMIM:608710
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Combined Oxidative Phosphorylation Deficiency 39	Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Recurrent respiratory in...	OMIM:618397
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Wide nasal bridge, Spasticity, Sparse eyebrow, Anteverted nares, Neonatal death, Dysplastic corpu...	OMIM:618810
Intellectual Developmental Disorder, Autosomal Dominant 73	Spasticity, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Cryptorchidism, Epiblepharo...	OMIM:620450
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Alazami Syndrome	Wide nasal bridge, Depressed nasal bridge, Short palpebral fissure, Severe short stature, Retract...	OMIM:615071
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Chédiak-Higashi Syndrome	Periodontitis, Hepatosplenomegaly, Parkinsonism, Cognitive impairment, Ataxia, Jaundice, Recurren...	ORPHA:167
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Osteoporosis	OMIM:224230
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Heme Oxygenase 1 Deficiency	Nephritis, Cervical lymphadenopathy, Hematuria, Proteinuria, Lymphadenopathy, Coombs-positive hem...	OMIM:614034
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, H...	ORPHA:2348
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Kanzaki Disease	Aminoaciduria, Depressed nasal bridge, Cerebral atrophy, Tortuosity of conjunctival vessels, Incr...	OMIM:609242
Spinocerebellar Ataxia-Dysmorphism Syndrome	Spina bifida occulta, Reduced bone mineral density, Slender long bone, Joint hypermobility	ORPHA:1185
Man1B1-Cdg	Wide nasal bridge, Broad-based gait, Sparse eyebrow, Resting tremor, Downslanted palpebral fissur...	ORPHA:397941
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Genu valgum, Hip contracture, Bowing of the long bones, Protr...	ORPHA:800
Emanuel Syndrome	Recurrent otitis media, Cryptorchidism, Torticollis, Anal atresia, High palate, Cerebral atrophy,...	OMIM:609029
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Wide nasal bridge, Optic atrophy, Cerebral cortical atrophy, Anteverted nares, Intrauterine growt...	ORPHA:2518
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Wide nasal bridge, Broad-based gait, Sensory axonal neuropathy, Upper limb muscle weakness, Lower...	OMIM:617146
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Roifman Syndrome	Hepatosplenomegaly, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Ly...	ORPHA:353298
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Anal stenosis, Broad nasal tip, Muscle weakness, Inability to walk, Elevated c...	OMIM:614207
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic atrophy, Cerebellar atrophy, Akinesia, Optic disc pallor, Lower limb spasticity, Abnormal p...	OMIM:618249
Tonne-Kalscheuer Syndrome	Wide nasal bridge, Spasticity, Broad-based gait, Growth delay, Velopharyngeal insufficiency, Down...	OMIM:300978
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Wide nasal bridge, Spasticity, Downslanted palpebral fissures, Long eyelash...	ORPHA:2863
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonic stenosis, Rig...	OMIM:616028
Diastrophic Dysplasia	Neonatal short-limb short stature, Hypoplastic cervical vertebrae, Abnormal form of the vertebral...	ORPHA:628
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated...	OMIM:273250
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Horseshoe kidne...	ORPHA:2470
Cooper-Jabs Syndrome	Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Joint hyperm...	ORPHA:1488
Progressive Multifocal Leukoencephalopathy	Mental deterioration, Somatic sensory dysfunction, Oculomotor nerve palsy, Abnormal astrocyte mor...	ORPHA:217260
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Short foot, Scoliosis	ORPHA:398079
Ciliary Dyskinesia, Primary, 19	Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:614935
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen...	OMIM:271510
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormal epiphysis morphology, Genu valgum, Abnormal metaphysis morphology, Joint ...	ORPHA:582
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Dicarboxylic aciduria, Hypertrophic cardiomyopathy,...	OMIM:201475
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Abnormal renal physiology, Hepatosplenomegal...	ORPHA:158057
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I...	ORPHA:755
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Roifman Syndrome	Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa...	OMIM:616651
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Abnormality of the dentition, Joint stiffness, Abnormal testis morphology, Scoliosis, Kyphosis	ORPHA:1548
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tra...	ORPHA:234
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Intellectual Developmental Disorder, Autosomal Dominant 62	Cerebellar vermis atrophy, Scoliosis	OMIM:618793
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	OMIM:222700
Preeclampsia	Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Renal insuff...	ORPHA:275555
Episodic Ataxia, Type 2	Episodic ataxia, Cerebellar vermis atrophy, Paresthesia, Dystonia, Muscle weakness, Progressive c...	OMIM:108500
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Wide nasal bridge, Cerebellar vermis hypoplasia, Sparse eyebrow, Cerebral palsy, Brain atrophy, U...	OMIM:620070
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce...	OMIM:277000
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Optic atrophy, Spasticity, Clitoral hypertrophy, Cerebellar vermis hypoplasia, Cerebellar atrophy...	ORPHA:543470
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Spasticity, Cerebellar atrophy, Agenesis of corpus callosum, Dysplastic corpus callosum, Abnormal...	OMIM:614833
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Recurrent fractures, Reduced bone miner...	OMIM:166220
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Genu valgum, Bowin...	ORPHA:321
Craniofaciofrontodigital Syndrome	Osteopenia, Finger joint hypermobility, Joint hypermobility, Osteoporosis, Scoliosis	ORPHA:363705
Igg4-Related Ophthalmic Disease	Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Abnormal optic nerve...	ORPHA:449563
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation, Chorioretinal coloboma, Retinal degeneration	OMIM:610688
Lysinuric Protein Intolerance	Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, I...	ORPHA:470
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Retinal pigment epithelial mottling, Atte...	OMIM:217080
Immunoglobulin A Vasculitis	Optic atrophy, Renal insufficiency, Episcleritis, Hemiplegia/hemiparesis, Orchitis, Hematuria, Pr...	ORPHA:761
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Arthrogryposis multiplex congenita, Cryptorchidism, Kyphoscoliosis, Flexion contracture...	OMIM:618484
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Steatorrhea, Bone-marrow foam cells, Esophageal varix	ORPHA:75233
Huppke-Brendel Syndrome	Inability to walk, CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy	OMIM:614482
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Scoliosis, Reduced bone mineral density, Recurrent fractures, Joint hypermobility	OMIM:619115
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Baraitser-Winter Cerebrofrontofacial Syndrome	Epicanthus, Euryblepharon, Short neck, Long nose, Wide nose, Hydroureter, Optic disc coloboma, Do...	ORPHA:2995
Poretti-Boltshauser Syndrome	Retinal atrophy, Retinal dystrophy, Retinal thinning	OMIM:615960
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Spasticity, Anal stenosis, Cerebellar atrophy, Cerebral atrophy, Antevert...	OMIM:614080
Ullrich Congenital Muscular Dystrophy	Elbow flexion contracture, Wrist hypermobility, Increased laxity of fingers, Knee flexion contrac...	ORPHA:75840
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Dysdiadochokinesis, Enuresis, Cerebellar atrophy, Renal sodium wasting, Peripheral...	OMIM:612780
Ovarian Fibrothecoma	Abnormality of the ovary, Ascites, Gonadal calcification, Abnormal endometrium morphology, Ovaria...	ORPHA:314478
Niemann-Pick Disease Type C	Mental deterioration, Leukodystrophy, Aspiration pneumonia, Speech apraxia, Hepatosplenomegaly, L...	ORPHA:646
Joubert Syndrome 10	Wide nasal bridge, Cerebellar vermis hypoplasia, Downslanted palpebral fissures, Dysmetria, Epica...	OMIM:300804
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Papillorenal Syndrome	Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Macular degeneration, Renal hypop...	OMIM:120330
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Cerebellar atrophy, Bilateral cryptorchidism, Elevated circulating aspa...	OMIM:619685
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Chiari malformation, Downslanted palpebral fissures, H...	ORPHA:46059
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Osteolysis	ORPHA:1546
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Gastroesophageal reflux, Oligosacchariduria	ORPHA:3137
Typical Nemaline Myopathy	Spinal rigidity, Scoliosis, Facial diplegia, Foot dorsiflexor weakness, Axial muscle weakness, Ne...	ORPHA:171436
Werner Syndrome	Small hand, Joint stiffness, Osteoporosis, Rocker bottom foot, Increased bone mineral density	ORPHA:902
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Pelizaeus-Merzbacher Disease	Optic atrophy, Spasticity, Cerebral cortical atrophy, Kyphosis, Recurrent respiratory infections,...	ORPHA:702
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Hyperalaninemia, Retinal degeneration	OMIM:616896
Galloway-Mowat Syndrome 1	Spasticity, Epicanthus, Diffuse mesangial sclerosis, Ataxia, Nephrotic syndrome, High palate, Spa...	OMIM:251300
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ...	ORPHA:85451
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Abnormality of the ureter, Ventricular septal defect, Polycystic ovaries, Cle...	ORPHA:1770
Cole-Carpenter Syndrome 1	Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Vertebral compression fracture, S...	OMIM:112240
Axial Mesodermal Dysplasia Spectrum	Gastroesophageal reflux, Abnormal morphology of female internal genitalia, Abnormality of the ure...	ORPHA:1834
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Cryptorchidism, Epicanthus, Ataxia, High palate, Hypospadias, Pain insensitivity, Inability to wa...	OMIM:300260
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Resting tremor, Cerebral atr...	ORPHA:314404
Peroxisome Biogenesis Disorder 10B	Cataract, Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Pparg-Related Familial Partial Lipodystrophy	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Panc...	ORPHA:79083
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatosplenomegaly, Hemolytic anemia, Anemia, Osteoporosis, Scoliosis	OMIM:619487
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto...	ORPHA:79312
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteoporosis, Osteopenia, Camptodactyly, Generalized joint hypermobility	ORPHA:432
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Mulibrey Nanism	Microglossia, Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Immunodeficiency 13	Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent sinusitis	OMIM:615518
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated circulating hepatic transaminase concentration, Downslanted palpebral fissures, Difficul...	OMIM:300280
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Inflammation of the large intestine, Lymphocytic infiltration of the colorect...	ORPHA:436159
Flynn-Aird Syndrome	Carious teeth, Joint stiffness, Bone cyst, Cachexia, Scoliosis, Kyphosis	ORPHA:2047
Combined Oxidative Phosphorylation Deficiency 37	Progressive neurologic deterioration, Optic atrophy, Spasticity, Elevated gamma-glutamyltransfera...	OMIM:618329
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Tetralogy of ...	OMIM:601186
9Q33.3Q34.11 Microdeletion Syndrome	Small scrotum, Webbed neck, Highly arched eyebrow, Epistaxis, Inability to walk, Cerebellar vermi...	ORPHA:495818
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Decreased calvarial ossification, Bowing of the long bones, Joint hype...	OMIM:616229
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis	ORPHA:85414
Ciliary Dyskinesia, Primary, 22	Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:615444
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten...	ORPHA:2978
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Joint hypermobility	ORPHA:319199
Dandy-Walker Malformation With Postaxial Polydactyly	Wide nasal bridge, Depressed nasal bridge, Dilated fourth ventricle, Narrow palpebral fissure, Pa...	OMIM:220220
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, Lymphadenopathy, ...	ORPHA:507
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Al Kaissi Syndrome	High, narrow palate, Wide nasal bridge, Broad-based gait, Broad nasal tip, Depressed nasal bridge...	OMIM:617694
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Absent outer dynein arms, Nasal congestion	OMIM:616037
Zaki Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Sparse eyebrow, Sparse lateral eyebrow, Dilated ...	OMIM:619648
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Microcephalic osteodysplastic primordial dwarfism, type III	Ulnar deviation of finger, Slender long bone, Hypoplasia of the capital femoral epiphysis, Disloc...	OMIM:210730
Chikungunya	Periostitis, Joint stiffness, Synovitis, Arthritis, Enthesitis, Stiff interphalangeal joints, Ost...	ORPHA:324625
Pycnodysostosis	Carious teeth, Delayed eruption of primary teeth, High palate, Coronal craniosynostosis, Dispropo...	ORPHA:763
Refsum Disease, Classic	Anosmia, Elevated circulating phytanic acid concentration, Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density	ORPHA:1399
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta...	ORPHA:824
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Central nervous system degeneration, Weight loss, Intestinal obstruction	ORPHA:183
Immunodeficiency 59 And Hypoglycemia	Wide nasal bridge, Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes ...	OMIM:233600
Trisomy 13	High, narrow palate, Optic atrophy, Chiari malformation, Abnormal morphology of female internal g...	ORPHA:3378
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Chorioretinitis, Splenomegaly, Wei...	OMIM:181000
Cystic Fibrosis	Nasal polyposis, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatos...	OMIM:219700
Angioedema, Hereditary, 1	Axonal degeneration, Peripheral axonal neuropathy, Intestinal edema, Hypoesthesia, Muscle weakness	OMIM:106100
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Joint stiffness, Genu valgum, Recurrent fractures, Arachnodactyly, Osteoporosis, Scoliosis, Kyphosis	ORPHA:394
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Hepatic...	OMIM:615895
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Chromosome 10Q26 Deletion Syndrome	Flared nostrils, Small scrotum, Broad-based gait, Webbed neck, Wide nasal bridge, Downslanted pal...	OMIM:609625
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome...	ORPHA:131
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Recurrent infections, Wide nasal bridge, Depressed nasal bridge, Downslanted ...	OMIM:617061
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly	ORPHA:99931
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Cerebral cortical atrophy, Spasticity, Highly arched eyebrow, Growth delay, Un...	OMIM:615803
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Decreased carnitine level in ...	OMIM:212140
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232200
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Spasticity, Broad nasal tip, Hypoplasia of the pons, Downslanted palpebral fis...	OMIM:300749
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Metaphyseal chondrodysplasia, Reduced bone mineral density	ORPHA:83629
Neu-Laxova Syndrome	Osteopenia, Rickets, Arthrogryposis multiplex congenita, Osteomalacia, Osteoporosis, Flexion cont...	ORPHA:2671
Familial Paroxysmal Ataxia	Cerebellar vermis atrophy, Hemiplegia, Torticollis, Ataxia, Dystonia	ORPHA:97
Craniofacial Dyssynostosis With Short Stature	Horseshoe kidney, Cryptorchidism, Ventricular septal defect, Hypospadias, Pyloric stenosis	OMIM:218350
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Recurre...	OMIM:619995
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Supernumerary nipple, Cryptorchidism, Epicanthus, Delayed CNS myelination, Short n...	OMIM:618454
Lethal Kniest-Like Dysplasia	Platyspondyly, Flat face, Abnormal cartilage morphology, Mesomelic/rhizomelic limb shortening, Hy...	ORPHA:2347
46,Xx Gonadal Dysgenesis	Arachnodactyly, Osteopenia, Osteoporosis of vertebrae, Reduced bone mineral density	ORPHA:243
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Flexion contracture, Short foot, Scoliosis, ...	ORPHA:398069
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Spasticity, Cholestasis, Hepatic steatosis, Elevated ci...	OMIM:124000
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Trichothiodystrophy	Diffuse cerebellar atrophy, Spasticity, Cryptorchidism, Epicanthus, Abnormal pyramidal sign, Cere...	ORPHA:33364
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Inferior cerebellar vermis hypoplasia, Horizontal eyebrow, Difficulty walking,...	OMIM:618571
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Kallmann Syndrome-Heart Disease Syndrome	Osteoporosis, Osteopenia	ORPHA:2326
Verheij Syndrome	Wide nasal bridge, Renal hypoplasia, Broad nasal tip, Growth delay, Cerebral atrophy, Anteverted ...	OMIM:615583
Marshall-Smith Syndrome	Slender long bone, Reduced bone mineral density, Increased susceptibility to fractures, Joint hyp...	ORPHA:561
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos...	OMIM:615631
Coffin-Lowry Syndrome	Optic atrophy, Cerebral cortical atrophy, Narrow palate, Depressed nasal bridge, Abnormal form of...	ORPHA:192
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ...	ORPHA:2930
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Involuntary movements, Broad nasal tip, Lateral ventricle dilatation, Inabilit...	OMIM:615716
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph...	ORPHA:528
Cimdag Syndrome	Recurrent infections, Cerebellar vermis hypoplasia, Spasticity, Cholelithiasis, Cerebral atrophy,...	OMIM:619273
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular ac...	OMIM:604278
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Lymphadenopathy, Membrano...	OMIM:619644
Farber Disease	Short toe, Short finger, Hepatosplenomegaly, Arthritis, Thrombocytopenia, Anemia, Osteoporosis, F...	ORPHA:333
Hurler Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Neurodegeneration, Anteverted nares, ...	OMIM:607014
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral...	OMIM:301068
Intellectual Developmental Disorder, Autosomal Dominant 43	Wide nasal bridge, Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, Dystoni...	OMIM:616977
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Orofaciodigital Syndrome Xv	Wide nasal bridge, Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of corpus callosum, H...	OMIM:617127
Cardiofaciocutaneous Syndrome 3	Scoliosis, Reduced bone mineral density	OMIM:615279
Norrie Disease	Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,...	OMIM:310600
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Abnormality of extrapyramidal motor function, Rigidity, Progressive spastic quadri...	ORPHA:521426
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,...	OMIM:606003
Immunodeficiency With Hyper-Igm, Type 1	Pneumocystis carinii pneumonia, Hepatitis, Splenomegaly, Sclerosing cholangitis, Ankle clonus, En...	OMIM:308230
Mosaic Variegated Aneuploidy Syndrome	Clinodactyly of the 5th finger, Acute lymphoblastic leukemia, Osteolysis	ORPHA:1052
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Hypoplastic female external genitalia, Long eyelashes, Anteverted nares, Crypt...	OMIM:618577
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy	OMIM:600649
Zimmermann-Laband Syndrome 2	Gingival overgrowth, Short neck, Deep philtrum, Thick vermilion border, Short stature, Macrogloss...	OMIM:616455
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab...	OMIM:601847
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Platyspondyly, Severe short stature, Hypoplasia of the odontoid ...	ORPHA:93314
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, S...	ORPHA:2237
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Hepatic failure, Cerebellar atrophy, Growth delay, Leukodystro...	OMIM:252010
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Pyruvate Dehydrogenase Deficiency	Wide nasal bridge, Spasticity, Cerebral palsy, Intrauterine growth retardation, Upslanted palpebr...	ORPHA:765
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Disproportionate short stature, Kyphosis, Abnormal form of ...	ORPHA:1354
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Spasticity, Spastic paraparesis, Upper limb muscle weakness, Lower limb muscle wea...	ORPHA:320375
Tick-Borne Encephalitis	Tongue fasciculations, Incoordination, Speech apraxia, Abnormal cranial nerve morphology, Ophthal...	ORPHA:297
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc...	OMIM:615234
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinur...	ORPHA:36412
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Aplastic clavicle, Bifid femur, Rickets, Broad distal phalanx of finger, Abnormal for...	ORPHA:2636
Nocardiosis	Pneumonia, Unusual CNS infection, Lymphadenitis, Cutaneous abscess, Keratitis, Brain abscess, Ost...	ORPHA:31204
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Arthrogryposis, Distal, Type 5	Limited wrist extension, Distal arthrogryposis, Congenital finger flexion contractures, Short sta...	OMIM:108145
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Lumbar hyperlordosis, Triphalangeal thumb, Contracture of the proximal interphalangea...	ORPHA:2232
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Cerebral atrophy, Stage 5 chronic kidney disease, Myoclonus, Proteinuria, Del...	OMIM:619609
Ciliary Dyskinesia, Primary, 5	Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:608647
Filippi Syndrome	Wide nasal bridge, Optic atrophy, Spasticity, Severe short stature, Broad columella, Underdevelop...	ORPHA:3255
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Lateral ventricle dilatation, Male urethral meatus stenosis, Difficulty walking, Agen...	ORPHA:464738
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin...	ORPHA:2795
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Epiretinal m...	OMIM:616959
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Anemia, Eosinophilia,...	OMIM:304790
Glycogen Storage Disease Ib	Gout, Hyperlipidemia, Hyperuricemia, Splenomegaly, Neutropenia, Osteoporosis	OMIM:232220
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ...	OMIM:266810
Singleton-Merten Syndrome 2	Osteopenia, Osteolytic defects of the phalanges of the hand, Scoliosis	OMIM:616298
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Webbed neck, Wide nasal bridge, Telecanthus, Anteverted nares, Intrauterine growth...	OMIM:616897
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Pyloric stenosis	OMIM:614262
Chromosome 16Q22 Deletion Syndrome	Wide nasal bridge, Highly arched eyebrow, Short palpebral fissure, Depressed nasal bridge, Growth...	OMIM:614541
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Cerebral cortical atrophy, Cerebellar atrophy, Stage 5 chroni...	OMIM:619603
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, T...	OMIM:619727
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Wide nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Inability to walk, Long...	OMIM:617452
Pierson Syndrome	Cataract, Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger ...	OMIM:609049
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Cataract, Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Astigmatism, Nephroblasto...	ORPHA:500095
Peho Syndrome	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Anteverted nares, Epicanthus, Atrop...	ORPHA:2836
Pontocerebellar Hypoplasia, Type 17	Cerebellar vermis hypoplasia, Kyphosis, Hypoplasia of the pons, Intrauterine growth retardation, ...	OMIM:619909
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis	OMIM:613808
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Splenomegaly, V...	OMIM:235255
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short finger, Elbow flexion contracture, Lumbar hyperlordosis, Joint...	OMIM:608328
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Lateral ventricle dilatation, Cerebellar...	OMIM:618291
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proximal muscle weakness in lower limbs, Generalized muscle weakness, Epicanthus, Short neck, Hig...	ORPHA:280633
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:69077
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Cerebellar atrophy, Limb myoclonus, Clumsiness, Gait disturbance, Ataxia	ORPHA:352582
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Cerebellar atrophy, Hypoplasia of the pons, Cerebral a...	OMIM:616430
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Hepatic cysts, Rod-cone dystrophy, Macular atrophy, Pancreatic...	OMIM:616307
Autosomal Dominant Spondylocostal Dysostosis	Wide nasal bridge, Severe short stature, Abnormal morphology of female internal genitalia, Anteve...	ORPHA:1797
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Biotinidase Deficiency	Diffuse cerebellar atrophy, Optic atrophy, Organic aciduria, Splenomegaly, Skin rash, Diffuse cer...	OMIM:253260
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Short foot, Scoliosis	ORPHA:98754
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Osteopenia, Congenital hip dislocation, Platyspondyly, Kyphosco...	OMIM:225400
Cinca Syndrome	Leukocytosis, Splenomegaly, Anemia, Brachydactyly, Elevated circulating C-reactive protein concen...	ORPHA:1451
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff...	ORPHA:91138
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Absent inner and outer dynein arms	OMIM:606763
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Ca...	OMIM:308940
Cockayne Syndrome Type 2	Male hypogonadism, Uveitis, Difficulty walking, Intrauterine growth retardation, Cryptorchidism, ...	ORPHA:90322
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Spastic paraplegia, Optic atrophy, Sensory axonal neuropathy, Inability to walk, Motor axonal neu...	OMIM:609541
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Abnormal bone ossification, Met...	ORPHA:175
Anaplastic Thyroid Carcinoma	Goiter, Tracheoesophageal fistula, Lymphadenopathy, Nodular goiter, Dysphagia	ORPHA:142
Stt3A-Cdg	Micropenis, Small scrotum, Cerebellar atrophy, Cryptorchidism	ORPHA:370921
Cystic Fibrosis	Nasal polyposis, Decreased body mass index, Absent vas deferens, Failure to thrive, Meconium ileu...	ORPHA:586
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan ...	ORPHA:505248
Blau Syndrome	Xerostomia, Abnormal optic nerve morphology, Abnormality of the liver, Abnormal cranial nerve mor...	ORPHA:90340
Zechi-Ceide Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Short palpebral fissure, Underdeveloped nasal al...	OMIM:612916
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Clitoral hypertrophy, Recurrent pneumonia, Cerebral atrophy, Downslanted palpebral fi...	OMIM:616449
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Spasticity, Cerebellar atrophy, Delayed CNS myelination, Neurogenic bladder, Growt...	ORPHA:466934
Hemifacial Atrophy, Progressive	Horner syndrome, Blepharophimosis, Ataxia, Tongue atrophy, Kyphosis	OMIM:141300
Blepharonasofacial Malformation Syndrome	Wide nasal bridge, Optic atrophy, Sparse lateral eyebrow, Underdeveloped nasal alae, Telecanthus,...	ORPHA:1252
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h...	OMIM:228300
Trisomy 18P	High, narrow palate, Highly arched eyebrow, Wide nasal bridge, Underdeveloped nasal alae, Bilater...	ORPHA:1715
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Post-Traumatic Pituitary Deficiency	Osteopenia, Osteoporosis of vertebrae	ORPHA:95619
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Proximal muscle weakness in lower limbs, Distal upper limb muscle weakness, Increased circulating...	OMIM:620138
Trisomy 20P	Incoordination, Abnormality of the ureter, Cryptorchidism, Epicanthus, Short neck, Blepharophimos...	ORPHA:261318
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Short foot, Scoliosis	ORPHA:98793
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Protruding tongue, Mitral valve prolapse, Cardiomegaly, Abnormal atriovent...	ORPHA:324410
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidn...	OMIM:601076
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Prader-Willi Syndrome	Osteopenia, Small hand, Increased susceptibility to fractures, Hip dysplasia, Osteoporosis, Short...	ORPHA:739
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Neurodegeneration, Recurrent otitis media, Postnatal growth r...	OMIM:253220
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Short foot, Scoliosis	ORPHA:177904
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Schaaf-Yang Syndrome	Arthrogryposis multiplex congenita, Failure to thrive in infancy, Obesity, Open mouth, Cryptorchi...	OMIM:615547
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Urinary bladder sphincter dysfunction, Cerebellar vermis atrophy, He...	ORPHA:64753
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Difficulty walking, Impaired vibration sensation in the lower limbs, Head tremor, ...	ORPHA:95433
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Retinal detachment, Macular atrophy, Buphthalmos, Iris coloboma	OMIM:212550
Smith-Lemli-Opitz Syndrome	Small scrotum, Recurrent otitis media, Cryptorchidism, Hepatic steatosis, Epicanthus, Cirrhosis, ...	OMIM:270400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Short foot, Scoliosis	ORPHA:177901
Lymphoid Interstitial Pneumonia	Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney	ORPHA:79128
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Wide nasal bridge, Broad-based gait, CNS hypomyelination, Underdeveloped nasal alae, Inability to...	OMIM:616158
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr...	ORPHA:90797
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Mhc Class I Deficiency 1	Nasal polyposis	OMIM:604571
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Wide nasal bridge, Cerebellar vermis hypoplasia, CNS hypomyelination, Recurrent aphthous stomatit...	OMIM:615966
Spinocerebellar Ataxia Type 7	Ophthalmoparesis, Mental deterioration, Cerebellar atrophy, Somatic sensory dysfunction, Cerebral...	ORPHA:94147
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Highly arched eyebrow, Bifid uvula, Depressed nasal bridge, Bilateral ptosis, ...	ORPHA:404440
Hyperphosphatasia-Intellectual Disability Syndrome	Supernumerary nipple, Elevated circulating alkaline phosphatase concentration, Epicanthus, Short ...	ORPHA:247262
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Diffuse cerebellar atrophy, Optic atrophy, Cerebral atrophy, Dystonic gait, Limb hypertonia, Corp...	ORPHA:480898
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, CNS hypomyelination, Lateral ventricle dilatation, Ant...	OMIM:610015
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Inflammation of the large intestine, Pancytopenia, Villous atrophy, Splenomeg...	OMIM:614700
Gillespie Syndrome	Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurred speech	OMIM:206700
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Argininemia	Spastic paraparesis, Cerebellar atrophy, Portal fibrosis, Micronodular cirrhosis, Reduced erythro...	OMIM:207800
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Wide nasal bridge, Sparse eyebrow, Telecanthus, Cryptorchidism, Sparse eyelashes, Kyphoscoliosis,...	ORPHA:75496
Bohring-Opitz Syndrome	Recurrent infections, Optic atrophy, Cholelithiasis, Wide nasal bridge, Annular pancreas, Urinary...	ORPHA:97297
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S...	OMIM:612714
Ciliary Dyskinesia, Primary, 1	Anosmia, Nasal polyposis, Chronic rhinitis, Asplenia, Absent outer dynein arms	OMIM:244400
Early Infantile Epileptic Encephalopathy	Precocious puberty, Depressed nasal bridge, Spasticity, Cerebellar atrophy, Ureterocele, Episodic...	ORPHA:1934
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Jacobsen Syndrome	Optic atrophy, Spasticity, Depressed nasal bridge, Annular pancreas, Short nose, Telecanthus, Ant...	OMIM:147791
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Mental deterioration, Cerebellar atrophy, Postur...	OMIM:254900
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th...	OMIM:616050
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Lymph node hypoplasia, Sple...	OMIM:613179
Intellectual Developmental Disorder, Autosomal Dominant 65	Wide nasal bridge, Thin eyebrow, Bulbous nose, Anteverted nares, Upslanted palpebral fissure, Age...	OMIM:619320
Fountain Syndrome	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal form of the vertebral b...	ORPHA:3219
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Mental deterioration, Cerebral palsy, Downslanted palpebral fissures, Cerebel...	ORPHA:163681
Rett Syndrome	Cerebral cortical atrophy, Spasticity, Gait ataxia, Gait apraxia, Motor deterioration, Short stat...	OMIM:312750
Crisponi Syndrome	Limitation of joint mobility, Long philtrum, Camptodactyly of finger, Narrow mouth, High palate, ...	ORPHA:1545
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck, Shor...	ORPHA:3098
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Iron deficiency anemia, Rickets, Osteomalacia	ORPHA:309031
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Bifid scrotum, Abnormal morphology of f...	ORPHA:887
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate...	OMIM:616860
Chronic Granulomatous Disease	Liver abscess, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophils,...	ORPHA:379
Mccune-Albright Syndrome	Precocious puberty, Renal phosphate wasting, Bone marrow hypocellularity, Gastroesophageal reflux...	ORPHA:562
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Cri-Du-Chat Syndrome	Wide nasal bridge, Optic atrophy, Bifid uvula, Recurrent infections in infancy and early childhoo...	OMIM:123450
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Choanal atresia, Carious teeth, Xerostomia, Broad nasal tip, Selective tooth agenesis, Cleft uppe...	OMIM:129900
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, High, narrow palate, Wide nasal bridge, Progressive spastic paraplegia, Antev...	ORPHA:96092
Baraitser-Winter Syndrome 1	Wide nasal bridge, Highly arched eyebrow, Postnatal growth retardation, Anteverted nares, Cryptor...	OMIM:243310
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Abnormal mitral valve morpholo...	ORPHA:1876
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Clinodactyly, Short toe, Radial deviation of finger, Hypocalcemia...	OMIM:218330
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Abnormality of the spleen, Cryptorchidism, Hepatic...	ORPHA:1606
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Joint stiffness, Hyperlipoproteinemia, Flexion contract...	ORPHA:1979
19P13.12 Microdeletion Syndrome	Precocious puberty, Aplasia/Hypoplasia of the cerebellar vermis, Narrow nasal bridge, Anteverted ...	ORPHA:254346
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Frontonasal Dysplasia 2	Wide nasal bridge, Cerebellar vermis hypoplasia, Short palpebral fissure, Sparse eyebrow, Depress...	OMIM:613451
Fanconi Anemia, Complementation Group L	Short neck, Delayed CNS myelination, Anal atresia, Depressed nasal tip, Cerebellar hypoplasia, At...	OMIM:614083
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Isolated Aniridia	Cataract, Aniridia, Peters anomaly	ORPHA:250923
Systemic Sclerosis	Chronic kidney disease, Barrett esophagus, Acute kidney injury, Intestinal bleeding, Gastroesopha...	ORPHA:90291
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Proteinuria, An...	ORPHA:829
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Increased circulating Ig...	ORPHA:186
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Hepatomegaly, Cirrhosis, Acholic st...	OMIM:607765
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, ...	ORPHA:79456
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Broad columella, Hypoautofluorescent retinal lesion, Underdeveloped nasal alae, Retinal degenerat...	OMIM:250410
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Depressed nasal bridge, Growth delay, Downslanted palpebral fissures, Bulbous nose,...	ORPHA:261144
Ruvalcaba Syndrome	Dental crowding, Limited elbow extension, Cryptorchidism, Delayed puberty, Short stature, Scolios...	OMIM:180870
Nephronophthisis 9	Retinal degeneration	OMIM:613824
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebral cortical atrophy, Sparse eyebrow, Cerebellar atrophy, Downslanted palpebral fissures, Pr...	OMIM:617011
Dyskeratosis Congenita	Bone marrow hypocellularity, Coarse metaphyseal trabecularization, Splenomegaly, Thrombocytopenia...	ORPHA:1775
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Retinal degeneration, Pancreatic fibrosis, Jaundice, Polycystic liver disease, ...	OMIM:208500
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Osteoporosis, Hyperlipidemia, Increased susceptibility to fractures	ORPHA:189427
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Limitation of joint ...	OMIM:607326
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, High palate, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Mucopolysaccharidosis, Type Ii	Severe short stature, Recurrent pneumonia, Intestinal pseudo-obstruction, Neurodegeneration, Hepa...	OMIM:309900
17Q11 Microdeletion Syndrome	Osteopenia, Kyphosis, Beaking of vertebral bodies T12-L3, Thickened cortex of long bones, Diaphys...	ORPHA:97685
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Cleft upper lip, Cryptorchidism, Elevated circulating creatine kinase concentratio...	OMIM:236670
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Lateral ventricle dilatation, Cerebral atrophy, Prominent nose, Cryptorchi...	OMIM:619244
Treacher Collins Syndrome 1	Choanal atresia, Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gl...	OMIM:154500
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl...	OMIM:619151
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Gastroesophageal reflux, Splenic cyst, Ovarian cy...	OMIM:618188
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly, Hypopl...	ORPHA:99812
Heart And Brain Malformation Syndrome	High, narrow palate, Cerebellar vermis hypoplasia, Wide nasal bridge, Global brain atrophy, Depre...	OMIM:616920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Choanal atresia, Anal stenosis, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper ...	OMIM:604292
Mogs-Cdg	Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Atri...	ORPHA:79330
D-Bifunctional Protein Deficiency	Depressed nasal bridge, Elevated circulating hepatic transaminase concentration, Cerebellar atrop...	OMIM:261515
Sandhoff Disease	Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal...	OMIM:268800
Koolen-De Vries Syndrome	Cryptorchidism, Epicanthus, Blepharophimosis, Hypospadias, High, narrow palate, Thick nasal alae,...	ORPHA:96169
Bilateral Polymicrogyria	Mental deterioration, Cerebellar atrophy, Pseudobulbar paralysis, Spastic hemiparesis, Facial dip...	ORPHA:268940
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites	OMIM:614702
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me...	ORPHA:67042
Hypomelanosis Of Ito	Epicanthus, Scoliosis, Kyphosis, Cerebral atrophy	OMIM:300337
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena...	OMIM:276700
Scapuloperoneal Spinal Muscular Atrophy	Broad-based gait, Progressive distal muscle weakness, Distal sensory impairment, Diaphragmatic we...	OMIM:181405
Oculoskeletodental Syndrome	Wide nasal bridge, Depressed nasal bridge, Nephrocalcinosis, Broad columella, Thick nasal alae, D...	ORPHA:557003
Lumbar Syndrome	Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital...	ORPHA:83628
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Tarp Syndrome	Wide nasal bridge, Optic atrophy, Cerebellar vermis hypoplasia, Short palpebral fissure, Hepatic ...	OMIM:311900
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Reduced bone mineral density, Recurrent fractures	ORPHA:137608
Glass Syndrome	Arachnodactyly, Generalized osteoporosis, Camptodactyly, Anterior tibial bowing	OMIM:612313
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Cataract, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bone...	OMIM:268315
Alg9-Cdg	Short neck, Torticollis, Hepatomegaly, Short nose, Cerebral atrophy, Villous atrophy, Lower limb ...	ORPHA:79328
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Decreased testicular size, Postnatal growth retardation,...	ORPHA:453533
Trigonocephaly 1	Lumbar hemivertebrae, High, narrow palate, Wide nasal bridge, Long penis, Meckel diverticulum, Up...	OMIM:190440
Thyroid Lymphoma	Dysphagia, Lymphadenopathy, Goiter	ORPHA:97285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Retinal degeneration	OMIM:615249
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Retinal Cone Dystrophy 3B	Macular atrophy, Cone/cone-rod dystrophy	OMIM:610356
Aspartylglucosaminuria	Abnormal vertebral morphology, Joint stiffness, Abnormal cortical bone morphology, Splenomegaly, ...	ORPHA:93
Scheie Syndrome	Depressed nasal bridge, Wide nose, Retinal degeneration	OMIM:607016
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Dysphagi...	ORPHA:1332
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Rickets, Pancytopenia, Hypocalcemia, Joint hypermobility, Thin bony ...	OMIM:613658
Aicardi-Goutieres Syndrome 7	Tetraparesis, Hepatic steatosis, Chilblains, Tetraplegia, Hepatomegaly, Recurrent lower respirato...	OMIM:615846
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
Proteus Syndrome	Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged poly...	ORPHA:744
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Papa Syndrome	Proteinuria, Lymphadenopathy, Crohn's disease	ORPHA:69126
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Highly arched eyebrow, Short palpebral fissure, Broad nasal tip, Hypoplasia of...	OMIM:620157
Ullrich Congenital Muscular Dystrophy 1A	Failure to thrive, Slender build, Wrist hypermobility, Increased laxity of fingers, Joint hypermo...	OMIM:254090
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces...	ORPHA:2686
Lissencephaly, X-Linked, 2	Wide nasal bridge, Spasticity, Decreased testicular size, Prominent nasal bridge, Agenesis of cor...	OMIM:300215
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Ovarian cyst, Neoplasm...	ORPHA:454840
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Congenital kyphoscoliosis, Kyphoscoliosis, Arachnodactyly...	ORPHA:536545
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Spasticity, Growth delay, Cerebral atrophy, Postnatal growth retardation,...	OMIM:301040
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Postencephalitic Parkinsonism	Involuntary movements, Oculogyric crisis, Kyphosis, Resting tremor, Bilateral ptosis, Akinesia, P...	ORPHA:97349
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr...	OMIM:300048
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d...	OMIM:616468
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Obesity, Microdontia, Short neck, Short stature, Scoliosis, Kyphosis	ORPHA:3191
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Downslanted palpebral fissures, Hypogonadism, Decreased testicular size, Promin...	ORPHA:85293
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened...	OMIM:127000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Thrombocytopenia-Absent Radius Syndrome	Horseshoe kidney, Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology,...	ORPHA:3320
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm...	ORPHA:1772
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral hypomyelination, Neurogenic bladder, Dela...	OMIM:616683
9P13 Microdeletion Syndrome	Precocious puberty, Highly arched eyebrow, Wide nasal bridge, Hand tremor, Recurrent otitis media...	ORPHA:324313
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas...	OMIM:130650
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Abnormal morphology of female internal genit...	ORPHA:538
Adrenomyodystrophy	Reduced bone mineral density	ORPHA:977
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Oral leukoplakia, Ascites, Gastrointestinal infarctions, Leukocyto...	ORPHA:342
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Cleft palate	ORPHA:247768
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Narrow palate, Downslanted palpebral fissures, Long eyelashes, Thoracic kyphos...	OMIM:620250
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l...	OMIM:612301
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Short palpebral fissure, Depressed nasal bridge, Impaired pain sensation, ...	OMIM:619005
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Wide nasal bridge, Broad-based gait, Broad nasal tip, Underdeveloped nasal alae, Telecant...	ORPHA:438216
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Acute Transverse Myelitis	Spasticity, Muscle flaccidity, Paraplegia, Paraparesis, CNS demyelination, Urinary incontinence, ...	ORPHA:139417
Sézary Syndrome	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
Aarskog-Scott Syndrome	Wide nasal bridge, Elevated circulating luteinizing hormone level, Cervical spine hypermobility, ...	OMIM:305400
Satoyoshi Syndrome	Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u...	ORPHA:3130
Donohue Syndrome	Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Cholestasis, Ovarian cyst...	OMIM:246200
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, He...	ORPHA:2035
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Downslanted palpebral fissures, Supern...	OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Scoliosis, Tip-toe gait, Shoulder girdle muscle weakness, Difficulty walking, Exerc...	OMIM:607155
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Cerebral cortical atrophy, Rigidity, Abnormality of extrapyramidal motor function,...	OMIM:617527
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Recurrent pneumonia, Prominent eyelashes, Prominent nasal bridge, Upslanted pa...	OMIM:619179
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis	OMIM:146200
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Cerebellar atrophy, Hypogonadism, Ataxia, Abnormal CNS myelination, Short stature	OMIM:610651
Pediatric Systemic Lupus Erythematosus	Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Dark urine, Renal...	ORPHA:93552
Neuromuscular Oculoauditory Syndrome	Sensory axonal neuropathy, Reduced renal corticomedullary differentiation, Agenesis of corpus cal...	OMIM:618733
Thanatophoric Dysplasia	Platyspondyly, Flat face, Disproportionate short-limb short stature, Intrauterine growth retardat...	ORPHA:2655
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Dec...	OMIM:618394
Intellectual Disability, Buenos-Aires Type	Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Reduced bone mineral dens...	ORPHA:3079
Cowden Syndrome 1	Varicocele, Colonic diverticula, Goiter, Furrowed tongue, Lymphopenia, Ovarian carcinoma, Ovarian...	OMIM:158350
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Ataxia, H...	ORPHA:280
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Platyspondyly, Hypoplasia of the odont...	OMIM:177170
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Short thumb, Kyphoscoliosis, Osteoporosis, Short foot, Sh...	OMIM:268400
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites...	OMIM:115197
X-Linked Intellectual Disability, Snyder Type	Recurrent fractures, Kyphoscoliosis, Arachnodactyly, Slender toe, Long toe, Camptodactyly, Osteop...	ORPHA:3063
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Spasticity, Memory impairment, Cerebellar atrophy, Cataplexy, Ataxia, Dementia	OMIM:604121
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hepatic steatosis, Cardiomegaly, H...	ORPHA:42
46,Xy Sex Reversal 4	Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,...	OMIM:154230
White-Sutton Syndrome	Optic atrophy, Cerebral cortical atrophy, Broad nasal tip, Cerebellar atrophy, Hypoplasia of the ...	ORPHA:468678
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Slender build, High palate, Scoliosis, Kyphosis	OMIM:300676
Braddock-Carey Syndrome 1	Wide nasal bridge, Multicystic kidney dysplasia, Anteriorly placed anus, Downslanted palpebral fi...	OMIM:619980
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren...	ORPHA:368
Progressive Non-Infectious Anterior Vertebral Fusion	Flat face, Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Joint stiffness,...	ORPHA:2062
Cancer-Associated Retinopathy	Diffuse cerebellar atrophy, Optic atrophy, Uterine neoplasm, Foveal hyporeflective spaces on macu...	ORPHA:71505
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Cerebral cortical atrophy, Highly arched eyebrow, Broad nasal tip, Anteriorly ...	OMIM:239300
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Choanal atresia, Anosmia, A...	ORPHA:2363
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Hippocampal atrophy, Decreased respons...	OMIM:618922
Cerebrofacioarticular Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Renal hypoplasia, Anal stenosis, Caudal appendag...	ORPHA:314679
Harrod Syndrome	Dental malocclusion, Failure to thrive, Intrauterine growth retardation, Narrow mouth, Cryptorchi...	ORPHA:2115
3M Syndrome	Delayed eruption of teeth, Long philtrum, Abnormal dental enamel morphology, Intrauterine growth ...	ORPHA:2616
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Aniridia 3	Cataract, Aniridia	OMIM:617142
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice	OMIM:235555
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Supernumerary nipple, Recurrent otitis media, Postnatal growth retardation, Epicanthus, Short nec...	OMIM:213980
Congenital Disorder Of Deglycosylation 1	Small hand, Hyperalaninemia, Osteoporosis, Short foot, Scoliosis, Elevated circulating alpha-feto...	OMIM:615273
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Retinopathy, Retinal degeneration	OMIM:252600
Autosomal Recessive Spastic Paraplegia Type 11	Cerebral cortical atrophy, Obesity, Abnormality of pattern visual evoked potentials, Retinal dege...	ORPHA:2822
Schinzel-Giedion Syndrome	Spasticity, Abnormality of the ureter, Streak ovary, Hepatoblastoma, Short neck, High palate, Hyp...	ORPHA:798
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Urinary retention,...	ORPHA:79124
Noonan Syndrome 6	Wide nasal bridge, Webbed neck, Depressed nasal bridge, Downslanted palpebral fissures, Bilateral...	OMIM:613224
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Osteopenia, Hyperlipidemia, Increased susceptibility to fr...	ORPHA:79259
Chromosome 14Q11-Q22 Deletion Syndrome	Spasticity, Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Delayed CNS myelination, Ble...	OMIM:613457
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, High palate,...	OMIM:617022
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, ...	ORPHA:84064
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Peritonitis, Lymphadenopathy, Hepatomegaly	ORPHA:343
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Jung Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormal form of the vertebral bodies, Telecanthus, Ce...	ORPHA:2321
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Spasticity, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Epicanthus, Short neck, Del...	OMIM:619950
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate	ORPHA:85212
Intellectual Disability-Developmental Delay-Contractures Syndrome	Congenital foot contractures, Limitation of joint mobility, Scoliosis, Kyphosis	ORPHA:3454
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Cleft soft palate, Cryptorchidism, Chordee, Ataxia, Hypospadias, Posterior pitu...	ORPHA:268261
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Psoriasiform dermatitis, Positive Romberg sign, Ataxia, Broad nasal t...	ORPHA:221139
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Abnormality of the gastrointestinal tract, G...	ORPHA:33276
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Broad-based gait, Downslanted palpebral fissures, Foot dorsiflexor weakness, Distal sensory impai...	ORPHA:477817
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	External ophthalmoplegia, Spasticity, Optic atrophy, Cerebellar atrophy, Optic disc pallor, Growt...	ORPHA:485421
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Mechanical ileus, Hepatomegaly, Adreno...	ORPHA:100079
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Mucolipidosis Ii Alpha/Beta	Megalocornea, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Opacification of t...	OMIM:252500
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Abs...	OMIM:300424
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Gm1-Gangliosidosis, Type I	Severe short stature, Depressed nasal ridge, Intrauterine growth retardation, Splenomegaly, Decre...	OMIM:230500
Slc39A8-Cdg	Recurrent infections, Cerebral cortical atrophy, Cerebellar atrophy, Disproportionate short-limb ...	ORPHA:468699
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulati...	ORPHA:97289
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Camptodact...	OMIM:609128
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Wide nasal bridge, Sparse eyebrow, Supernumerary nipple, Downslanted palpebral fissures, Bilatera...	ORPHA:477993
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden...	OMIM:603554
Okamoto Syndrome	Aortic valve stenosis, Urinary incontinence, Anal stenosis, Gastroesophageal reflux, Exaggerated ...	ORPHA:2729
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Hypertrophic cardiomyopathy, Labial hypertrophy, Splenomegaly, Hepatic stea...	OMIM:269700
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Cataract, Enlarged kidney	OMIM:261740
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Short palpebral fissure, Sparse eyebrow, Growth delay, Bifid scrotum, Underdev...	OMIM:613026
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, CNS hypomyelination, Lateral ventricle dilatation, Cerebellar atrophy, Thick eyebrow,...	OMIM:618367
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor...	ORPHA:2494
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase...	ORPHA:85410
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta...	OMIM:613812
Cowden Syndrome 6	Varicocele, Colonic diverticula, Goiter, Furrowed tongue, Ovarian cyst, High palate, Hydrocele te...	OMIM:615109
Oeis Complex	Hydroureter, Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitali...	OMIM:258040
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Cryptorchidis...	OMIM:602535
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, High, narrow palate, Nephrocalcinosis, Global brain atrophy, Cerebellar atrop...	ORPHA:369837
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Villous atrophy, Decrea...	OMIM:606367
Endocrine-Cerebroosteodysplasia	Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys	OMIM:612651
Wilson Disease	Hypouricemia, Hypoalbuminemia, Osteomalacia, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, ...	OMIM:277900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Abnormal metaphysis morphology, Agammaglobulinemia, Long fibula, Anemia, Reduced bon...	ORPHA:935
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Hepatic sinusoidal dilatation, Lateral ventricle dilatation, Cryptorchidism, High pal...	OMIM:620371
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, High palate, Hydrocele testis	OMIM:605309
Periventricular Nodular Heterotopia	Abnormal heart valve morphology, Gastroesophageal reflux, Pyloric stenosis	ORPHA:98892
Cowden Syndrome 5	Colonic diverticula, Goiter, Furrowed tongue, Ovarian cyst, High palate, Hydrocele testis, Hamart...	OMIM:615108
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent otitis media, Speech apraxia, Postnatal growth retardation, Pear-shaped nose, Cryptorch...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent otitis media, Speech apraxia, Postnatal growth retardation, Pear-shaped nose, Cryptorch...	ORPHA:363958
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Mitral valve prolapse, Splenomegaly, Hypogonadotropic ...	ORPHA:251066
Non-Distal Deletion 10Q	Wide nasal bridge, Upslanted palpebral fissure, Epicanthus, Ptosis, Gait disturbance, Cognitive i...	ORPHA:1581
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Optic atrophy, Abnormality of the dentition, Failure to thrive, Thick lower li...	ORPHA:2785
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries	ORPHA:2969
Menkes Disease	Osteomyelitis, Joint hypermobility, Bowing of the long bones, Osteoporosis, Tarsal synostosis, Ab...	ORPHA:565
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
Congenital Heart Defects And Skeletal Malformations Syndrome	Intestinal malrotation, Narrow nose, Intrauterine growth retardation, Upslanted palpebral fissure...	OMIM:617602
Oculoskeletodental Syndrome	Protein-losing enteropathy, Cryptorchidism, Splenomegaly, Hypercalciuria, Mucopolysacchariduria, ...	OMIM:618440
Osteogenesis Imperfecta, Type I	Osteopenia, Femoral bowing, Biconcave flattened vertebrae, Increased susceptibility to fractures,...	OMIM:166200
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Cardiomyopathy, Labial hypertrophy, Splenomegaly, Hepatic steatosis, Nephro...	OMIM:608594
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Recurrent aphthous stomatitis, Herpes simplex encephalitis	OMIM:614850
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ...	ORPHA:398124
Congenital Tracheal Stenosis	Hypoplastic left heart, Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach m...	ORPHA:141127
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Urinary retention, Eczematoid dermatitis, Growth delay, Inability to walk, Hy...	OMIM:617799
Galloway-Mowat Syndrome 3	Spasticity, Cerebellar atrophy, Cerebral atrophy, Downslanted palpebral fissures, Intrauterine gr...	OMIM:617729
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Osteoporosis, Hyperkalemia, Reduced...	ORPHA:168558
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,...	ORPHA:90793
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Cerebellar atrophy, Decreased pineal volume, Enterocolitis, N...	OMIM:301108
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Bifid scrotum, Downslanted palpebral fissures, Antever...	ORPHA:363659
Fryns Syndrome	Cryptorchidism, Agenesis of corpus callosum, Short neck, Blepharophimosis, Narrow palpebral fissu...	OMIM:229850
Prolactinoma	Osteoporosis, Osteopenia	ORPHA:2965
Glycerol Kinase Deficiency	Pathologic fracture, Osteoporosis, Hyperglycerolemia, Hypertriglyceridemia	OMIM:307030
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Ruvalcaba Syndrome	Downslanted palpebral fissures, Abnormal vertebral epiphysis morphology, Intrauterine growth reta...	ORPHA:3121
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Osteoporosis, Hyperkalemia, Reduced...	ORPHA:289548
Exstrophy-Epispadias Complex	Penoscrotal transposition, Urinary incontinence, Renal hypoplasia, Anal stenosis, Bifid scrotum, ...	ORPHA:322
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Stickler Syndrome, Type I	Platyspondyly, Bifid uvula, Joint stiffness, Spondylolisthesis, Submucous cleft hard palate, Morb...	OMIM:108300
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney, Abnormality of the lymphatic system	ORPHA:276280
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Leukocyte Adhesion Deficiency Type Ii	Recurrent otitis media, Protruding tongue, Ataxia, Hepatomegaly, Depressed nasal ridge, Cerebral ...	ORPHA:99843
Omodysplasia 2	Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Uterus didelphys, Recurrent otitis me...	OMIM:164745
Meckel Syndrome 12	Wide nasal bridge, Bifid uvula, Renal hypoplasia, Agenesis of cerebellar vermis, Anteverted nares...	OMIM:616258
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Pa...	ORPHA:77293
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233710
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:435651
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Macrodontia, Hypoplasti...	ORPHA:2916
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Townes-Brocks Syndrome 2	Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Anal atresia, Rectovaginal fist...	OMIM:617466
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, High palate, Polycystic ovaries	ORPHA:284180
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u...	OMIM:158330
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Intestinal fistula, Zollinger-Ellison syndrome, Hydronephrosis, Small intesti...	ORPHA:100078
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger, Short stature, Scoli...	ORPHA:1883
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Recurrent infections, Gait ataxia, Tremor, Epicanthus, Attention deficit hyperactivity disorder, ...	ORPHA:476126
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Hypopituitarism, Absent peripheral lymph nodes in presence o...	ORPHA:98813
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency,...	ORPHA:228308
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Ulnar-Mammary Syndrome	Renal hypoplasia, Abnormality of the uterus, Breast aplasia, Cryptorchidism, Ventricular septal d...	ORPHA:3138
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Ascites, Splen...	ORPHA:2137
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Thickened cortex of long bones, Spina bifida occulta,...	ORPHA:488434
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cor triatriatum, Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryp...	OMIM:612541
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Orofacial cleft, Deep philtrum, Incomplete cleft of the upper lip, Kyphosis	ORPHA:77300
Zellweger Syndrome	Clitoral hypertrophy, Multicystic kidney dysplasia, Cryptorchidism, Ventricular septal defect, Hy...	ORPHA:912
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Mental deterioration, Cryptorchidism, Agenesis of corpus callosum,...	ORPHA:2273
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Abnormal hip bone morphology, Arachnodactyly, Abnormality of neutrophils, Red...	ORPHA:2720
Rauch-Steindl Syndrome	Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Bilateral renal hypoplasia, Pro...	OMIM:619695
Marden-Walker Syndrome	Multicystic kidney dysplasia, Agenesis of corpus callosum, Blepharophimosis, Abnormal cerebellar ...	ORPHA:2461
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration	ORPHA:1573
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Short neck, Hyperlordosis, Short stature, Kyphosis, Fused cervical ve...	ORPHA:2522
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Sandwich appearance of vertebral bodies,...	OMIM:620558
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ...	OMIM:146255
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Immunodeficiency 31C	Protein-losing enteropathy, Lymphopenia, Villous atrophy, Splenomegaly, Autoimmune hemolytic anem...	OMIM:614162
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Abnormality of the dentition, Long philtrum, Smooth philtrum, Short stature, Short philtrum, Scol...	ORPHA:261190
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Dy...	OMIM:252930
Atypical Werner Syndrome	Limitation of joint mobility, Finger clinodactyly, Sclerosis of hand bone, Intervertebral disk de...	ORPHA:79474
Hypoplasminogenemia	Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Duodenal ulcer, Ce...	ORPHA:722
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233690
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Scoliosis, Kyphosis, Joint hypermobility	ORPHA:2181
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Open mouth, Joint hypermobility, Short philtrum, Everted lower lip vermilion, Short s...	ORPHA:2479
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia	OMIM:620514
X-Linked Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs...	ORPHA:98863
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Pyloric stenosis, High palate, Bilateral cryptorchidism	ORPHA:314575
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Narrow nasal bridge, Upslanted palpebral fissure, Cryptorchidism, Short neck, Aplasia/Hypoplasia ...	ORPHA:3082
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Rod-cone dystrophy, Hepatomegaly, H...	OMIM:266920
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Wide nasal bridge, Bifid uvula, Short palpebral fissure, Choanal atresia, Depressed nasal bridge,...	OMIM:300968
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Vent...	OMIM:614921
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Long philtrum, Camptodactyly of finger, Intrauterine growt...	ORPHA:2311
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:158061
Robinow Syndrome, Autosomal Dominant 3	Cryptorchidism, Epicanthus, Short neck, Micropenis, Short nose, Long eyelashes, Short stature, Sa...	OMIM:616894
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Increased susceptibility to fractures, Reduced bone mineral density, Osteolysis	ORPHA:652
Lateral Meningocele Syndrome	Downslanted palpebral fissures, Telecanthus, Cryptorchidism, Biconcave vertebral bodies, Chiari t...	OMIM:130720
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Clitoral hypertrophy, Cryptorchidism, Epicanthus, Short neck, Hypos...	ORPHA:818
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Short palpebral fissure, Cerebellar vermis atrophy, Upslanted palpebral f...	OMIM:156610
Gaucher Disease, Perinatal Lethal	Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopenia, Hepatomegaly, ...	OMIM:608013
Genitopalatocardiac Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Downslanted palpebral fissures, Abnormal mesente...	ORPHA:2075
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Acquired Generalized Lipodystrophy	Cardiomyopathy, Hepatic steatosis, Polycystic ovaries, Proteinuria, Cirrhosis, Hepatomegaly, Acut...	ORPHA:79086
Thanatophoric Dysplasia Type 2	Platyspondyly, Flat face, Limitation of joint mobility, Joint hypermobility, Short stature, Kyphosis	ORPHA:93274
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy	ORPHA:168549
Singleton-Merten Syndrome 1	Osteopenia, Shallow acetabular fossae, Expanded metatarsals with widened medullary cavities, Hypo...	OMIM:182250
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Weaver Syndrome	Depressed nasal bridge, Spasticity, Lateral ventricle dilatation, Downslanted palpebral fissures,...	OMIM:277590
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Tented philtrum, Long philtrum, Anteverted nares, Absent scrotum, Retinal degeneration, Smooth ph...	OMIM:618479
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Malakoplakia	Urinary bladder inflammation, Dysuria, Neoplasm of the colon, Urinary hesitancy, Follicular hyper...	ORPHA:556
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Peritonitis, Abnormal myocardium mo...	ORPHA:32960
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Timothy Syndrome	Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect	OMIM:601005
Trisomy 8P	Bifid uvula, Nephrocalcinosis, Malrotation of small bowel, Annular pancreas, Recurrent upper resp...	ORPHA:264450
Achondroplasia	Thoracolumbar kyphosis, Rhizomelia, Disproportionate short stature, Hip joint hypermobility, Cerv...	ORPHA:15
Myasthenic Syndrome, Congenital, 20, Presynaptic	Ophthalmoparesis, Neck muscle weakness, Fatigable weakness, Proximal muscle weakness, Bulbar pals...	OMIM:617143
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Me...	ORPHA:100080
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syndrome	OMIM:617713
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Pagod Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphol...	ORPHA:991
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Wide nasal bridge, Depressed nasal bridge, Accessory spleen, Cholestatic liver disease, Failure t...	OMIM:619418
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Mosaic Trisomy 1	Wide nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal bridge, Lateral ventricle dilata...	ORPHA:1692
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hepatic steatosis, Cardiomegaly, Hepato...	OMIM:255120
Hypermobile Ehlers-Danlos Syndrome	Limitation of joint mobility, Osteolysis, Joint hypermobility, Arachnodactyly, Osteoarthritis, Sc...	ORPHA:285
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis	OMIM:614473
Distal Deletion 12Q	Short neck, Ectopic kidney, Polycystic kidney dysplasia, Duodenal atresia, High, narrow palate, A...	ORPHA:96149
Dpagt1-Cdg	Clinodactyly, Arachnodactyly, Anemia, Camptodactyly, Osteoporosis, Flexion contracture, Scoliosis	ORPHA:86309
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Macular degeneration, Angioid streaks of the fundus, Retinal hemorrhage, Hig...	OMIM:177850
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Increased serum bile acid concentration, Hyp...	OMIM:619377
Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs...	ORPHA:98853
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Say-Barber-Miller Syndrome	Optic atrophy, Tooth malposition, Carious teeth, Macular degeneration, Broad nasal tip, Hypogonad...	ORPHA:3132
Lipe-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology	ORPHA:435660
Zttk Syndrome	Spasticity, Absent gallbladder, Epicanthus, High palate, Short nose, Sparse eyebrow, Downslanted ...	OMIM:617140
Noonan Syndrome 14	High, narrow palate, Webbed neck, Sparse eyebrow, Lateral ventricle dilatation, Downslanted palpe...	OMIM:619745
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites...	ORPHA:2905
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Cerebral cortical atrophy, Sparse eyebrow, Downslanted palpebral fissures, Difficulty walking, Lu...	ORPHA:457359
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Agenesis of corpus callosum, Epicanthus, Ataxia, High palate, Chron...	ORPHA:2750
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia	ORPHA:65288
Helsmoortel-Van Der Aa Syndrome	Lateral ventricle dilatation, Ankyloglossia, Cryptorchidism, Epicanthus, Narrow palpebral fissure...	OMIM:615873
Knobloch Syndrome 1	Depressed nasal bridge, Cerebellar atrophy, Horizontal eyebrow, Cerebral atrophy, Bifid ureter, T...	OMIM:267750
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Broad long bones, Broad phalanx, Short metacarpal, Calcification of cartilage, Knee flexion contr...	OMIM:271665
Primary Sclerosing Cholangitis	Hypoalbuminemia, Osteopenia, Hepatosplenomegaly, Splenomegaly, Polyclonal elevation of IgM, Osteo...	ORPHA:171
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Pallidal degeneration, Retinal fle...	ORPHA:157850
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Hypoplasia of the uterus, Hypospadias, Epididy...	OMIM:137920
Oculomaxillofacial Dysostosis	Wide nasal bridge, Abnormality of the nose, Underdeveloped nasal alae, Sparse or absent eyelashes...	ORPHA:1794
Ring Chromosome 7 Syndrome	Prominent crus of helix, Narrow naris, Epicanthus, Lumbar kyphoscoliosis, Hypospadias, Short nose...	ORPHA:1449
Primrose Syndrome	Generalized osteoporosis, Short distal phalanx of finger, Kyphosis, Genu valgum, Hip contracture,...	OMIM:259050
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Gona...	OMIM:618419
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiom...	OMIM:620376
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Atelosteogenesis Type I	Platyspondyly, Rhizomelia, Absent or minimally ossified vertebral bodies, Telecanthus, Neonatal s...	ORPHA:1190
Mucopolysaccharidosis Type 2	Wide nasal bridge, Optic atrophy, Recurrent upper respiratory tract infections, Decreased nerve c...	ORPHA:580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Hypoplasia of the retina, Retinal degeneration, Elevated circulating creatine kina...	OMIM:253280
Marfan Syndrome	Osteopenia, Limited elbow movement, Arachnodactyly, Joint hypermobility, Arthralgia/arthritis, Os...	ORPHA:558
Opitz Gbbb Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Growth delay, Rectourethral fistula, Telecanthus...	OMIM:300000
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Acrodysostosis	Irregular menstruation, Depressed nasal ridge, Wide nasal bridge, Depressed nasal bridge, Abnorma...	ORPHA:950
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Spasticity, Annular pancreas, Inability to walk, Ankyloglossia, Intrauterine growth retardation, ...	ORPHA:488642
Neuhauser Syndrome	Wide nasal bridge, Cerebral cortical atrophy, Bifid uvula, Depressed nasal bridge, Downslanted pa...	OMIM:249310
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc...	OMIM:617994
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypoplasia of the odontoid process, Increased intervertebral space, Opisthotonus, Hepatomegaly, L...	ORPHA:508533
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Lateral Meningocele Syndrome	High, narrow palate, Chiari malformation, Abnormal form of the vertebral bodies, Downslanted palp...	ORPHA:2789
Glycogen Storage Disease Ii	Splenomegaly, Cardiomegaly, Hepatomegaly, Urinary incontinence, Macroglossia	OMIM:232300
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Cerebral cortical atrophy, Kyphosis, Duodenal atresia, In...	ORPHA:464311
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Platyspondyly, Wide nasal bridge, Depressed nasal bridge, Bil...	OMIM:242900
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Intervertebral disk degeneration, Joint hypermobility, Arachnodactyly, K...	ORPHA:284984
Giant Cell Arteritis	Ophthalmoparesis, Optic atrophy, Hepatic failure, Epistaxis, Paresthesia, Renal insufficiency, He...	ORPHA:397
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Gastrointestinal stroma tumor, Lymphadenopat...	ORPHA:1572
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventr...	OMIM:309801
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Delayed patellar ossification, Joint hypermobility, Posterior scalloping of vertebral bodies, Sho...	OMIM:603546
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Dental malocclusion, Increased hepatic echogenicity, Optic d...	OMIM:608940
Pseudoxanthoma Elasticum	Choroidal neovascularization, Macular degeneration, Angioid streaks of the fundus, Retinal peau d...	OMIM:264800
Pelger-Huet Anomaly	Abnormality of the dentition, Kyphosis, Failure to thrive, Gingival overgrowth, Median cleft pala...	OMIM:169400
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Speech apraxia, Narrow nasal bridge, Prominent nose, Cryptorchidism, Tremor,...	OMIM:300967
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Ovarian cyst	ORPHA:327
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Abnormality of the dentition, Central nervous system degen...	ORPHA:581
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Menin...	OMIM:614379
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Monosomy 22Q13.3	Wide nasal bridge, Impaired pain sensation, Palpebral edema, Long eyelashes, Recurrent pyelonephr...	ORPHA:48652
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Autosomal Agammaglobulinemia	Recurrent infections, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Osteomyelitis,...	ORPHA:33110
Dyrk1A-Related Intellectual Disability Syndrome	Cryptorchidism, Anterior pituitary hypoplasia, Optic disc pallor, Hypospadias, Duodenal atresia, ...	ORPHA:464306
3Mc Syndrome 2	Abnormal vertebral morphology, Highly arched eyebrow, Wide nasal bridge, Caudal appendage, Abnorm...	OMIM:265050
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Beck-Fahrner Syndrome	Cardiomegaly, High palate, Ventricular septal defect	OMIM:618798
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Small scrotum, Webbed neck, Downslanted palpebral fissures, Abnormal circul...	ORPHA:2215
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Ileus, Splenomegaly, Recurrent gastroenteritis, Autoimmune hemolytic anemia, Abnormal ...	ORPHA:37042
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Flexion contractu...	OMIM:619040
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re...	ORPHA:731
Koolen-De Vries Syndrome	Pear-shaped nose, Cryptorchidism, Epicanthus, Blepharophimosis, High palate, Eczematoid dermatiti...	OMIM:610443
Tetrasomy 5P	Wide nasal bridge, Recurrent respiratory infections, Postnatal growth retardation, Anteverted nar...	ORPHA:3309
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes...	ORPHA:193
Hennekam Syndrome	Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia...	ORPHA:2136
Cirrhotic Cardiomyopathy	Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice...	ORPHA:57777
Mucopolysaccharidosis Type 6	Failure to thrive, Thick lower lip vermilion, Joint stiffness, Short neck, Disproportionate short...	ORPHA:583
Vici Syndrome	Depressed nasal bridge, Everted upper lip vermilion, Hypopigmentation of the fundus, Ocular albin...	OMIM:242840
Craniofrontonasal Syndrome	Axillary pterygium, Webbed neck, Wide nasal bridge, Bifid nasal tip, Downslanted palpebral fissur...	OMIM:304110
Mucolipidosis Iii Gamma	Joint stiffness, Claw hand deformity, Shoulder contracture, Short neck, Hyperlordosis, Finger joi...	OMIM:252605
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th...	ORPHA:221120
Dyskeratosis Congenita, Autosomal Recessive 8	Inflammation of the large intestine, Cerebellar atrophy, Oral leukoplakia, Intrauterine growth re...	OMIM:620133
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Precocious puberty, Increased urinary 11-deoxycorticosterone level, Clitoral hypertrophy, Long pe...	ORPHA:90795
Tarp Syndrome	Wide nasal bridge, Optic atrophy, Broad-based gait, Short palpebral fissure, Horseshoe kidney, An...	ORPHA:2886
Lynch Syndrome	Pituitary adenoma, Pancreatic adenocarcinoma, Hepatocellular carcinoma, Endometrial carcinoma, In...	ORPHA:144
Neuroendocrine Tumor Of The Rectum	Hematochezia, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Me...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Me...	ORPHA:100082
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hepatic steatosis, Polycystic ovaries	OMIM:604367
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Abnormal circulating selenium concentration, Foot joint contracture, Iron deficiency ...	ORPHA:79408
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Recurrent bronchitis, Men...	ORPHA:331235
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Patellar hypoplasia, Pathologic...	ORPHA:221016
Intellectual Developmental Disorder, Autosomal Dominant 57	Broad nasal tip, Tip-toe gait, Telecanthus, Prominent nasal bridge, Upslanted palpebral fissure, ...	OMIM:618050
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis, Hypophosphatemia, Hypercalcemia	ORPHA:99880
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi...	ORPHA:2909
Carney Complex	Euthyroid multinodular goiter, Increased circulating prolactin concentration, Neoplasm of the pan...	ORPHA:1359
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Horseshoe kidney, Vesicoureteral reflux, Cryptorchi...	OMIM:616368
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, H...	ORPHA:280365
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:90037
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Stage 5 chronic kidney...	OMIM:614527
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo...	ORPHA:2050
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Abnormality of endocrine ...	ORPHA:93111
Feingold Syndrome	Depressed nasal bridge, Short palpebral fissure, Annular pancreas, Abnormal form of the vertebral...	ORPHA:1305
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Hepatosplenomegaly, Pancytopeni...	OMIM:615688
Wiedemann-Steiner Syndrome	Wide nasal bridge, Webbed neck, Short palpebral fissure, Rhizomelia, Decreased response to growth...	ORPHA:319182
Fanconi Anemia, Complementation Group D2	Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Horseshoe kidney, Cr...	OMIM:227646
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Orofaciodigital Syndrome I	Hepatic fibrosis, Hamartoma of tongue, Ankyloglossia, Abnormal heart morphology, Hepatic cysts, O...	OMIM:311200
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Hilar lymph node enlargement, Cholestasis, Leukocytosis, Mitral valve pr...	OMIM:620233
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Leukemia, Patellar hypoplasia, ...	ORPHA:221008
Parathyroid Carcinoma	Osteoporosis, Hypophosphatemia, Hypercalcemia	ORPHA:143
Bone Marrow Failure Syndrome 3	Recurrent infections, Chromosome breakage, Eczematoid dermatitis, Downslanted palpebral fissures,...	OMIM:617052
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, ...	OMIM:619573
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Wide nasal bridge, Unilateral renal agenesis, Broad nasal tip, Hydroureter, Disproportionate shor...	OMIM:619194
Gaucher Disease, Type I	Aortic valve stenosis, Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepat...	OMIM:230800
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Short finger, Clinodactyly of the 5th finger, Lower-limb joint contracture, Osteo...	ORPHA:459070
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Renal hypoplasia, Intestinal malrotation, Decreased testicular size, Hypoplasia of...	OMIM:619321
Campomelic Dysplasia	Flat face, Tracheomalacia, Recurrent fractures, Short neck, Poorly ossified cervical vertebrae, S...	ORPHA:140
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Synostosis of carpal bones, Moderate postnatal growth retardation, Abnormal...	ORPHA:1005
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
15Q Overgrowth Syndrome	High, narrow palate, Bifid uvula, Wide nasal bridge, Ureterovesical stenosis, Downslanted palpebr...	ORPHA:314585
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Severe short stature, Inferior cerebellar vermis hypoplasia, Sparse eyebrow, I...	ORPHA:444072
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Nasal congestion, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Digeorge Syndrome	Hepatic steatosis, Ovarian cyst, Ventricular septal defect, High palate, High, narrow palate, Cho...	OMIM:188400
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Gastrointestinal hemorrhage, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Urina...	ORPHA:512
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Abnormal heart morphology, Abnormal aortic...	ORPHA:261197
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Cryptorchidism, Epicanthus, Short neck, Thoracolumbar scoliosis, High pala...	OMIM:265000
Chromosome 18P Deletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Gonadal dysgenesis, Decreased testicular size, Antevert...	OMIM:146390
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Rabin-Pappas Syndrome	Wide nasal bridge, Highly arched eyebrow, Short palpebral fissure, Broad nasal tip, Hypoplasia of...	OMIM:620155
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Scarf Syndrome	Wide nasal bridge, Webbed neck, Abnormal form of the vertebral bodies, Bifid scrotum, Downslanted...	OMIM:312830
Microphthalmia, Lenz Type	Webbed neck, Ankyloblepharon, Hydroureter, Optic disc coloboma, Cryptorchidism, Hydronephrosis, H...	ORPHA:568
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Kyphosis, Elbow flexion contracture, Obesity, Joint stiffness, Decreased cervical spine flexion d...	ORPHA:98855
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Retinal degeneration	ORPHA:79244
Pontocerebellar Hypoplasia Type 7	Spasticity, Clitoral hypertrophy, Cryptorchidism, Epicanthus, High palate, Involuntary movements,...	ORPHA:284339
Fryns Syndrome	Wide nasal bridge, Cerebral cortical atrophy, Multicystic kidney dysplasia, Intestinal malrotatio...	ORPHA:2059
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Leukemia, Renal insufficiency, Splenomegaly, Lymp...	ORPHA:33226
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Isolated Biliary Atresia	Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n...	ORPHA:30391
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,...	ORPHA:116
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Camptodactyly of finger, Supernumerary nipple, Bicoronal synostosis,...	OMIM:619951
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos...	OMIM:618278
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Rhizomelic arm s...	OMIM:223800
2Q31.1 Microdeletion Syndrome	Cerebral cortical atrophy, Short palpebral fissure, Optic disc coloboma, Downslanted palpebral fi...	ORPHA:251014
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Rhizomelia, Chiari malformation, Annular pancreas, Eczematoid dermatitis, Elev...	OMIM:618162
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Microglossia, Underdeveloped nasal alae, Thin eyebrow, Telecanthus, Bulb...	ORPHA:364577
Lig4 Syndrome	Wide nasal bridge, Prominent nose, Psoriasiform dermatitis, Cryptorchidism, Upslanted palpebral f...	OMIM:606593
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Horseshoe kidney, Tetralogy of Fallot, Hepatosplenomegaly, Atrioventricular ...	OMIM:274000
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Fuchs Heterochromic Iridocyclitis	Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, Iris atrophy, Hetero...	ORPHA:263479
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Single ventricle, Polycystic kidney...	OMIM:619879
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Short palpebral fissure, Growth delay, Abnormality of the ureter, Tele...	ORPHA:3339
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Pearson Syndrome	Postnatal growth retardation, Hepatic steatosis, Ophthalmoplegia, Ataxia, Hepatomegaly, Hypoparat...	ORPHA:699
Poland Syndrome	Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Scoliosis...	ORPHA:2911
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Short 5th metacarpa...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Short 5th metacarpa...	ORPHA:99228
Monosomy X	Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Short 5th metacarpa...	ORPHA:99226
Turner Syndrome	Osteopenia, Enlargement of the distal femoral epiphysis, Short toe, Kyphosis, Short 5th metacarpa...	ORPHA:881
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Saccharopinuria	Hypercystinemia, Hyperammonemia, Hyperlysinemia, Abnormal circulating enzyme concentration, Eleva...	ORPHA:3124
Isolated Agammaglobulinemia	Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Me...	ORPHA:229717
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Hypotriglyceridemia, Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrop...	ORPHA:85167
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly	ORPHA:3035
Familial Mediterranean Fever	Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritoniti...	OMIM:249100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Cryptorchidism, Superficial dermal perivascular inflammatory infilt...	ORPHA:83617
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Flared nostrils, Difficulty walking, Thoracolumbar scoliosis, High palate, Anal ...	ORPHA:480880
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Short stature, Macroglossia, Scoliosis, Kyphosis	ORPHA:79107
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ...	ORPHA:96191
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst	OMIM:613546
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Cerebellar vermis hypoplasia, Hepatic fibrosis, Microglossia, Lateral ventricle di...	OMIM:263520
Fucosidosis	Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Glycopeptid...	OMIM:230000
Scedosporiosis	Pneumonia, Abnormal jejunum morphology, Unusual CNS infection, Unusual skin infection, Invasive f...	ORPHA:449280
3-Methylglutaconic Aciduria, Type Viia	Delayed CNS myelination, Cerebellar atrophy, 3-Methylglutaconic aciduria	OMIM:619835
Trisomy 9P	Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Impacted tooth,...	ORPHA:236
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, External ophthalmoplegia, Downslanted palpebral fissures, Short columella, Epi...	OMIM:613603
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Nephronophthisis 11	Hepatic fibrosis, Retinal degeneration	OMIM:613550
Kosaki Overgrowth Syndrome	Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Xanthelasma, Ptosis, T...	OMIM:616592
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Absent distal phalanges, Joint hypermobility, Arachnodactyly, Post...	OMIM:610168
Stickler Syndrome	Open bite, Slender build, Abnormal vitreous humor morphology, Short hard palate, Cachexia, Retina...	ORPHA:828
Autosomal Dominant Robinow Syndrome	Cryptorchidism, Epicanthus, Hypoplastic labia majora, Euryblepharon, Short neck, Hypospadias, Epi...	ORPHA:3107
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, High palate, Abnormal thymus morphology	ORPHA:2463
Stromme Syndrome	Accessory spleen, Cerebellar vermis hypoplasia, Wide nasal bridge, Bilateral renal hypoplasia, In...	OMIM:243605
Coffin-Siris Syndrome 4	Wide nasal bridge, Depressed nasal bridge, Thick nasal alae, Long eyelashes, Thick eyebrow, Narro...	OMIM:614609
Aniridia 1	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Aniridia, Corneal neovascular...	OMIM:106210
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Meacham Syndrome	Horseshoe kidney, Enlarged kidney	OMIM:608978
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Hepatitis, Leukocytosis, Splenomegaly, Autoimmun...	OMIM:620565
Mgat2-Cdg	Kyphosis, Downslanted palpebral fissures, Long eyelashes, Low hanging columella, Hypoplastic nipp...	ORPHA:79329
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Global brain atrophy, Cerebellar atrophy, Inability to walk, Delayed CNS myelination, Truncal ata...	OMIM:620066
Bangstad Syndrome	Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries	ORPHA:1227
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Periportal fibrosis, Hamartoma of tongue, Intestinal malrotation, Ascites, Medi...	OMIM:269860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive secondary to recurrent infections, Otitis media, Recurrent opportuni...	OMIM:601457
Kleefstra Syndrome	Gastroesophageal reflux, Supernumerary nipple, Tetralogy of Fallot, Renal insufficiency, Cryptorc...	ORPHA:261494
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:305000
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Abnormal vertebral morphology, Highly arched eyebrow, Wide nasal bridge, Supernumerary nipple, Do...	OMIM:616728
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv...	ORPHA:3427
Arthrogryposis Multiplex Congenita 5	Wide nasal bridge, Growth delay, Hand tremor, Akinesia, Medullary nephrocalcinosis, Anteverted na...	OMIM:618947
Cushing Disease	Decreased eosinophil count, Lymphopenia, Leukocytosis, Osteoporosis, Vertebral compression fracture	ORPHA:96253
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Broad-based gait, Recurrent bronchitis, Epicanthus, Short neck, Delayed CNS myelin...	OMIM:620330
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Ankyloglossia, Cryptorchidism, Epicanthus, Short neck, Chronic otit...	ORPHA:1507
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Hydrometrocolpos, Cryptorchidism, He...	ORPHA:110
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade...	ORPHA:424016
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra...	OMIM:214500
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Anemia, Pancreatit...	ORPHA:499009
Spondyloenchondrodysplasia	Chronic kidney disease, Platyspondyly, Spasticity, Pneumonia, Hepatitis, Decreased response to gr...	ORPHA:1855
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Histiocytoid Cardiomyopathy	Ventricular septal defect, Polycystic ovaries, Renal cyst, Cardiomegaly, Hepatomegaly, Cleft palate	ORPHA:137675
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Chronic otitis media, Anteverted nares, Upslanted palpebral fissure, Crypt...	ORPHA:261250
Graft Versus Host Disease	Hemophagocytosis, Hepatosplenomegaly, Recurrent gastroenteritis, Lymphadenopathy, Gastrointestina...	ORPHA:39812
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Cerebellar vermis hypoplasia, Wide nasal bridge, CNS hypomyelination, Dilated f...	OMIM:619306
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, ...	ORPHA:373
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Webbed neck, Depressed nasal bridge, Broad nasal tip, Decreased response to growth hormone stimul...	OMIM:618223
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Knobloch Syndrome	Bifid ureter, Vesicoureteral reflux, Dextrocardia, Lymphangioma, Pyloric stenosis	ORPHA:1571
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa...	ORPHA:308552
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly	OMIM:617591
Pseudohypoparathyroidism Type 1A	Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica...	ORPHA:79443
Acute Monoblastic/Monocytic Leukemia	Oliguria, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Sinusitis, Recurrent cutaneous abscess ...	ORPHA:47
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Multiple Myeloma	Nephropathy, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Splenomeg...	ORPHA:29073
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Macular degeneration	OMIM:617236
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Distal Triplication 15Q	Large for gestational age, Intrauterine growth retardation, High palate, Camptodactyly, Craniosyn...	ORPHA:314588
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Postnatal growth retardation, Cryptorchidism, Delayed CNS myelination, High...	OMIM:135900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Cryptorchi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Cryptorchi...	ORPHA:352665
Ogden Syndrome	Flared nostrils, Palpebral thickening, Recurrent otitis media, Postnatal growth retardation, Cryp...	OMIM:300855
Estrogen Resistance	Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Trichohepatoenteric Syndrome 1	Bifid uvula, Galactosuria, Hepatic fibrosis, Tetralogy of Fallot, Cholestasis, Villous atrophy, S...	OMIM:222470
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Left ventricula...	OMIM:619148
Hurler-Scheie Syndrome	Growth delay, Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fin...	OMIM:607015
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Thrombocytopenia, Anemia, Osteoporosis, Scoliosis	OMIM:619525
Flat Face-Microstomia-Ear Anomaly Syndrome	High, narrow palate, Small scrotum, Sparse eyebrow, Highly arched eyebrow, Wide nasal bridge, Und...	ORPHA:1968
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Irregular menstruation, Depressed nasal bridge, Disproportionate short stature, Br...	OMIM:616482
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Severe infection, Meningitis	ORPHA:464370
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Ureteral agenesis, Hypoplasia of the uterus, Renal hypoplasia	OMIM:617914
Primary Sjögren Syndrome	Arteritis, Xerostomia, Chronic hepatitis, Lymphocytic interstitial pneumonia, Glomerulonephritis,...	ORPHA:289390
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Carcinoid Syndrome	Intestinal carcinoid, Small intestine carcinoid, Hepatic necrosis, Chronic noninfectious lymphade...	ORPHA:100093
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Gastroesophageal reflux, Multiple bladder diverticula, Ascites, Right ventricul...	OMIM:613177
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Scoliosis, Volvulus, Horseshoe kidney, Pyelonephritis, Vesicouretera...	OMIM:301111
Dubowitz Syndrome	Velopharyngeal insufficiency, Postnatal growth retardation, Cryptorchidism, Epicanthus, Blepharop...	OMIM:223370
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular...	OMIM:236680
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy, Pollakisuria, Dysphagia	ORPHA:268
Carney Triad	Gastrointestinal hemorrhage, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, Lymphadeno...	ORPHA:139411
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Limb hypertonia, Cerebral atrophy, Cerebellar atrophy	OMIM:620306
Cog1-Cdg	Wide nasal bridge, Cerebellar vermis hypoplasia, Temporal cortical atrophy, Rhizomelia, Downslant...	ORPHA:263508
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Thick lower lip vermilion, Failure to thrive in infancy...	OMIM:162300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy...	OMIM:614643
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Splenomegaly, Hepatic ste...	ORPHA:567983
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Zollinger-Elliso...	ORPHA:100075
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Retinal coloboma, Iris cyst, ...	OMIM:612109
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Osteoporosis, Abnormal blood ion concentration, Anemia	ORPHA:79404
Cornelia De Lange Syndrome 1	Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, High palate, Ectopic kidney,...	OMIM:122470
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Cerebellar vermis hypoplasia, Spasticity, Hypoplasia of the pons, Neurodegener...	OMIM:620455
Mucolipidosis Type Ii	Flat face, Limitation of joint mobility, Limited wrist movement, Decreased movement range in inte...	ORPHA:576
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral...	OMIM:271520
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona...	OMIM:185000
Rett Syndrome, Congenital Variant	Depressed nasal bridge, Spasticity, Scoliosis, Bulbous nose, Chorea, Apraxia, Dystonia, Athetosis...	OMIM:613454
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Wide nasal bridge, Webbed neck, Broad-based gait, Highly arched eyebrow, Depressed nasal bridge, ...	OMIM:280000
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:520
Tsh-Secreting Pituitary Adenoma	Osteoporosis, Osteopenia, Hypokalemia	ORPHA:91347
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Williams Syndrome	Spasticity, Chiari malformation, Cryptorchidism, Polycystic ovaries, Epicanthus, Blepharophimosis...	ORPHA:904
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Recurrent pneumonia, Depressed nasal bridge, Inability to walk, Short stature, Uns...	OMIM:618493
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Hypertonia, At...	OMIM:618426
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Brachyolmia Type 3	Platyspondyly, Childhood-onset short-trunk short stature, Short neck, Scoliosis, Kyphosis	OMIM:113500
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology	OMIM:605808
Bronchial Neuroendocrine Tumor	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, El...	ORPHA:97287
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal mu...	ORPHA:67036
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Intrauterine growth retardation, Butterfly vertebrae, Short phi...	ORPHA:958
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse...	OMIM:256300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Decreased circulating iron concentration, Joint hypermobility, Hip dysplasia, Anemia,...	ORPHA:438213
Intermediate Uveitis	Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Tubulointerstitial nephr...	ORPHA:279914
Cleidocranial Dysplasia 1	High, narrow palate, Narrow palate, Spondylolysis, Delayed eruption of permanent teeth, Delayed p...	OMIM:119600
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Cardiomegaly, Cardiomyopathy	OMIM:105210
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Failure to thrive, Abnormal circulating enzyme ...	ORPHA:35706
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hypogonadism, Cryptorchidism, Attention deficit hyperactivity disorder, Gait disturbance, Short s...	ORPHA:500055
Lymphatic Malformation 6	Gastroesophageal reflux, Intestinal lymphangiectasia, Ascites, Splenomegaly, Atrial septal defect...	OMIM:616843
Congenital Disorder Of Glycosylation, Type Iim	Recurrent infections, Wide nasal bridge, Lateral ventricle dilatation, Cerebral atrophy, Intraute...	OMIM:300896
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Feingold Syndrome 1	Accessory spleen, Wide nasal bridge, Short palpebral fissure, Annular pancreas, Polysplenia, Depr...	OMIM:164280
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Ankyloglossia, Bulbous nose, Intrauterine growth retardation, Vesicoureteral r...	ORPHA:250989
Alkaptonuria	Calcification of cartilage, Joint stiffness, Hemolytic anemia, Reduced bone mineral density, Incr...	ORPHA:56
Kabuki Syndrome 1	Abnormal vertebral morphology, Anoperineal fistula, Lateral ventricle dilatation, Recurrent otiti...	OMIM:147920
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Cervical lymph...	OMIM:617718
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Intervertebral space narrowing, Narrow vertebral interpedicular distance, Short neck, High palate...	OMIM:143095
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Congenital pyloric atresia, Esophageal atresia	OMIM:226730
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Rubinstein-Taybi Syndrome 1	Incoordination, Postnatal growth retardation, Cryptorchidism, Agenesis of corpus callosum, Epican...	OMIM:180849
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Wide nasal bridge, Hypospadias, Renal hypoplasia, Short palpebral fissure, Thoracic hemivertebrae...	ORPHA:508498
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Obesity, Narrow mouth, Kyphosis	ORPHA:261222
Meckel Syndrome	Accessory spleen, Optic atrophy, Multicystic kidney dysplasia, Depressed nasal ridge, Aplasia/Hyp...	ORPHA:564
Thanatophoric Dysplasia Type 1	Platyspondyly, Flat face, Lethal short-limbed short stature, Joint stiffness, Abnormal sacroiliac...	ORPHA:1860
Esophageal Atresia	Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Intestinal malrotation, T...	ORPHA:1199
Microphthalmia, Syndromic 5	Micropenis, Cataract, Microcornea, Optic nerve hypoplasia	OMIM:610125
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Intrauterine growth retardation, Craniosynostosis, High palate, Triangular f...	OMIM:616914
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric...	ORPHA:31150
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro...	OMIM:619381
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Loeys-Dietz Syndrome 3	Osteopenia, Hip osteoarthritis, Intervertebral disk degeneration, Joint hypermobility, Arachnodac...	OMIM:613795
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,...	OMIM:601346
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Abnormality of the uterus, Intestinal...	OMIM:249000
Congenital Tracheomalacia	Gastroesophageal reflux, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defec...	ORPHA:95430
Immunodeficiency 46	Conjunctivitis, Recurrent sinopulmonary infections, Meningitis, Chronic oral candidiasis	OMIM:616740
Camurati-Engelmann Disease	Optic atrophy, Urinary retention, Abnormality of the vertebral column, Hypogonadism, Optic nerve ...	ORPHA:1328
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Splenomegaly, Aplasia of the e...	OMIM:617088
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Abnormal tongue morphology, Ce...	ORPHA:653
Becker Nevus Syndrome	Supernumerary nipple, Hypoplastic labia minora, Abnormal scrotum morphology, Spina bifida occulta...	ORPHA:64755
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Abnormal metaphysis morphology, Hypocalcemia, Splenomegaly, Bowing...	ORPHA:667
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Tooth malposition, Narrow palate, Periodontitis, Cryptorchidism, Thoracic scoliosis, ...	ORPHA:536532
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent pneumonia, Skin rash, Hypoplasia of the thymus, Recurrent fungal infections,...	OMIM:300400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Elevated gamma-glutamyltransferase level, Spasticity, Depressed nasal bridge, Exocrine pancreatic...	OMIM:618500
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Subvalvular aortic stenosis, Dysphagia, Mitral stenosis, Pyloric stenosis	OMIM:619461
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Gastroesophageal reflux, Bifid sc...	OMIM:107480
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Tracheomalacia	OMIM:245650
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia...	OMIM:300257
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Abdominal situs inversus, Upslanted palpebral fissure, Cryptorchidi...	OMIM:619123
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Cleft palate	ORPHA:158687
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren...	OMIM:613500
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Dilated cardiomyopathy, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomega...	ORPHA:3260
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Ankyloglossia, Epicanthus, Aplasia of the thymus, Thyroid hypoplasia, Choanal atresia, Sparse eye...	OMIM:620186
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Upper limb muscle weakness, Pancreatic cysts, Neoplasm of the pancr...	ORPHA:892
Hereditary Sensory And Autonomic Neuropathy Type 5	Pain insensitivity, Impaired temperature sensation, Decreased number of small peripheral myelinat...	ORPHA:64752
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Grade III vesicoureteral reflux, Cryptorchidism, Urethral stricture, Epicanthus, Chordee, Narrow ...	OMIM:619522
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Bifid uvula, Cleft soft palate, Cleft palate	ORPHA:2736
Acrocardiofacial Syndrome	Wide nasal bridge, Cerebral cortical atrophy, Long eyelashes, Intrauterine growth retardation, Cr...	ORPHA:2008
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Spasticity, Chiari malformation, Lateral ventricle dilatation, Absent gallbladder, Epicanthus, Ce...	ORPHA:500150
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Scoliosis, Finger syndactyly, Short lower limbs, Reduced bone mineral density	ORPHA:1556
Orofaciodigital Syndrome Iii	Bifid uvula, Tongue nodules, Microdontia, Bifid tongue, Supernumerary tooth, Kyphosis	OMIM:258850
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Growth delay, Downturned corners of mouth, Bilateral camptodactyly, Thin upper lip vermilion, Sho...	OMIM:619557
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra...	ORPHA:100085
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Highly arched eyebrow, Wide nasal bridge, Depressed nasal bridge, Female ...	OMIM:110100
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy	OMIM:620422
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Growth delay, Incoordination, Recurrent infections due to aspiration, Glomerular sclerosis, Decre...	OMIM:223900
Monosomy 9Q22.3	Chiari malformation, Abnormality of the vertebral column, Downslanted palpebral fissures, Epicant...	ORPHA:77301
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Open mouth, Cryptorchidism, Everted lower ...	ORPHA:534
Xq21 Microdeletion Syndrome	Optic atrophy, Reticular pigmentary degeneration, Decreased response to growth hormone stimulatio...	ORPHA:1435
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Highly arched eyebrow, Anteverted nares, Cleft soft palate, Intrauterine growt...	ORPHA:2282
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis...	OMIM:617913
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Decreased erythrocy...	OMIM:611881
Immunodeficiency 66	Pustule, Meningitis, Recurrent skin infections	OMIM:618847
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia,...	OMIM:619488
Alveolar Echinococcosis	Abnormal vertebral morphology, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Ab...	ORPHA:284
Phocomelia, Schinzel Type	High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu...	ORPHA:2879
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Webbed neck, Bifid uvula, Depressed nasal bridge, Cervical C5/C6 vertebrae fus...	OMIM:613458
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel...	ORPHA:261265
Acute Generalized Exanthematous Pustulosis	Cholestasis, Renal insufficiency, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutr...	ORPHA:293173
Atelis Syndrome 2	Short palpebral fissure, Bulbous nose, Prominent nose, Dysmetria, Dacryocystocele, Epicanthus, At...	OMIM:620185
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia...	ORPHA:83471
Witteveen-Kolk Syndrome	Flared nostrils, Male urethral meatus stenosis, Glue ear, Epicanthus, Delayed CNS myelination, Hi...	OMIM:613406
Short Syndrome	Ovarian cyst	OMIM:269880
Wolf-Hirschhorn Syndrome	Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Hypospadias, Precocious puberty, Severe ...	OMIM:194190
Renpenning Syndrome 1	Wide nasal bridge, Spasticity, Renal hypoplasia, Sparse lateral eyebrow, Cerebral atrophy, Decrea...	OMIM:309500
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
Lacrimoauriculodentodigital Syndrome 1	Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon...	OMIM:149730
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy	OMIM:208000
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Anemia, Hypercalciuria, Polyuria, Hepatomegaly, P...	OMIM:239200
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Narrow naris, Epicanthus, Short neck, Delayed CNS myelination, High palate, Rectal prolapse, Shor...	OMIM:617157
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Limited wrist movement, Limited hip movement, Joint stiffness, Limi...	ORPHA:740
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Hematuria, Neutrophilia, Hepatomegaly, Jaundice, Epididymitis, Ascites, Lymphadenop...	ORPHA:99827
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Rectourethral fistula, Sagittal craniosyno...	OMIM:603116
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Angiostrongyliasis	Hyperesthesia, Unusual CNS infection, Paresthesia, Meningitis, Distal muscle weakness, Muscle wea...	ORPHA:74
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Elevated circulating luteinizing hormone level, Supernumerary lacrimal punctum, Lacrimal gland hy...	ORPHA:572333
Mend Syndrome	Sacral dimple, Telecanthus, Prominent nasal bridge, Upslanted palpebral fissure, Cryptorchidism, ...	ORPHA:401973
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Joint hypermobility, Hypokalemia, Osteoarthritis, Osteolysis	ORPHA:286
22Q11.2 Deletion Syndrome	Cryptorchidism, Epicanthus, Parkinsonism, Short neck, Hypoparathyroidism, Anal atresia, Polycysti...	ORPHA:567
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Spasticity, Broad-based gait, Multicystic kidney dysplasia, Lateral ventricle dilatation, Recurre...	ORPHA:261537
Agammaglobulinemia 10, Autosomal Dominant	Meningitis, Recurrent respiratory infections, Recurrent sinusitis	OMIM:619707
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios...	ORPHA:3384
Abetalipoproteinemia	Hepatic fibrosis, Acanthocytosis, Hepatic steatosis, Reticulocytosis, Cardiomegaly, Hepatomegaly,...	ORPHA:14
Mend Syndrome	Sacral dimple, Bulbous nose, Crossed fused renal ectopia, Prominent nasal bridge, Cryptorchidism,...	OMIM:300960
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased number of peripheral myelinated nerve fibers	OMIM:201300
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Hepatomegaly	ORPHA:163746
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Chorioretinal coloboma, Macular atrophy	OMIM:602499
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Spasticity, Broad-based gait, Multicystic kidney dysplasia, Lateral ventricle dilatation, Hypopla...	ORPHA:261552
Aspartylglucosaminuria	Platyspondyly, Acne, Spasticity, Spondylolysis, Depressed nasal bridge, Cerebral atrophy, Recurre...	OMIM:208400
Acromelic Frontonasal Dysostosis	Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Downslanted palpebral fissures, Hypopituitar...	OMIM:603671
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Rhizomelia, Disproportionate short-limb short stature, Tho...	OMIM:618019
Neuroblastoma	Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate...	ORPHA:635
Okur-Chung Neurodevelopmental Syndrome	Wide nasal bridge, Highly arched eyebrow, Anteverted nares, Protruding tongue, Epicanthus, Attent...	OMIM:617062
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Mental deterioration, Hepatosplenomegaly, Cognitive impairment, Wi...	ORPHA:217085
Trichinellosis	Memory impairment, Hemiplegia, Confusion, Skin rash, Hemiparesis, Conjunctival hyperemia, Babinsk...	ORPHA:863
Martin-Probst Syndrome	Wide nasal bridge, Bifid scrotum, Telecanthus, Renal insufficiency, Cryptorchidism, Proteinuria, ...	OMIM:300519
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Chiari malformation, Hydroureter, Annular pancreas, Meckel ...	OMIM:265380
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista...	OMIM:269150
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Abnormal central motor function, Hypogonadism, Pan...	ORPHA:91351
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Abnormal dental enamel morphology, Abnormal dental morphology, Abnormal...	ORPHA:85199
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis...	OMIM:615710
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Wide nasal bridge, Depressed nasal bridge, Absent nipple, Downslanted palpebral fissures, Uretera...	OMIM:104350
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Ramon Syndrome	Delayed eruption of teeth, Decreased body weight, Gingival fibromatosis, Short stature, Narrow pa...	OMIM:266270
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Wide nasal bridge, Depressed nasal bridge, Dysgenesis of the cerebellar ve...	OMIM:619479
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl...	ORPHA:288
Mowat-Wilson Syndrome	Broad-based gait, Spasticity, Multicystic kidney dysplasia, Recurrent otitis media, Enlarged cere...	ORPHA:2152
Spondyloperipheral Dysplasia	Platyspondyly, Rhizomelic arm shortening, Rhizomelic leg shortening, Limited elbow extension, Sho...	OMIM:271700
Neurofibromatosis Type 1	Precocious puberty, Memory impairment, Pheochromocytoma, Paresthesia, Cryptorchidism, Plexiform n...	ORPHA:636
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Holoprosencephaly 14	Cerebellar atrophy, Proboscis, Anteverted nares, Dandy-Walker malformation, Partial absence of ce...	OMIM:619895
Heterotaxy, Visceral, 5, Autosomal	Renal hypoplasia, Absence of the sacrum, Cerebellar atrophy, Cerebral atrophy, Ureteral stenosis,...	OMIM:270100
Barber-Say Syndrome	Wide nasal bridge, Ectropion, Breast aplasia, Bulbous nose, Telecanthus, Sparse or absent eyelash...	ORPHA:1231
Mullegama-Klein-Martinez Syndrome	Wide nasal bridge, Bifid uvula, Submucous cleft of soft and hard palate, Depressed nasal bridge, ...	OMIM:301022
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality...	ORPHA:2072
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cyst, Hepatomega...	OMIM:312870
Williams-Beuren Syndrome	Osteopenia, Clinodactyly of the 5th finger, Down-sloping shoulders, Kyphoscoliosis, Radioulnar sy...	OMIM:194050
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Rickets, Failure to thrive, Osteomalacia, Camptodac...	OMIM:309000
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Cerebral atrophy, Downslanted palpebral fissures, Upsl...	OMIM:601088
Fusariosis	Pneumonia, Unusual CNS infection, Invasive fungal infection, Keratitis, Brain abscess, Fasciitis,...	ORPHA:228119
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Pancreatic hypoplasia, Cerebellar agenesis, Cerebellar hypoplasia, Convex...	OMIM:609069
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Cryptorchidism, Midgut malrotation, Micropenis, Cleft palate, Pyloric stenosis	OMIM:263750
Lipodystrophy, Familial Partial, Type 2	Labial pseudohypertrophy, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Acute pancreatitis	OMIM:151660
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Cerebral hypomyelination, Lower limb spasticity, Clonu...	ORPHA:447997
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Yunis-Varon Syndrome	High, narrow palate, Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery sten...	ORPHA:3472
Shprintzen Omphalocele Syndrome	Flared nostrils, Webbed neck, Wide nasal bridge, Lumbar hyperlordosis, Short columella, Epicanthu...	OMIM:182210
Proteasome-Associated Autoinflammatory Syndrome 1	Parotitis, Microcytic anemia, Splenomegaly, Cardiomegaly, Lymphadenopathy, Thrombocytopenia, Hepa...	OMIM:256040
Congenital Alveolar Capillary Dysplasia	Abnormal vertebral morphology, Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotat...	ORPHA:210122
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Otitis media, Recurrent bacterial meningitis, Rhinitis, Sinusitis, Recurrent b...	ORPHA:70593
Mosaic Trisomy 20	Cleft lip, Spinal canal stenosis, Intrauterine growth retardation, Cryptorchidism, Vertebral segm...	ORPHA:1724
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Sparse eyebrow, Thin eyebrow, Prominent nasal bridge, Entropion, High palate, Hypospa...	OMIM:609944
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Progressive spastic paraplegia, Loss of eyelashes, Demyelinati...	ORPHA:2821
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis, Hyperextensibility of the finger joints	OMIM:609008
Proximal Renal Tubular Acidosis	Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Glycosuria, Hypernatriuria, Low-mole...	ORPHA:47159
Acromegaly	Acne, Macroglossia, Impotence, Long penis, Kyphosis, Cerebral palsy, Pituitary prolactin cell ade...	ORPHA:963
Limb-Mammary Syndrome	Bifid uvula, Absent nipple, Breast aplasia, Submucous cleft soft palate, Aplasia of the ovary, Ap...	ORPHA:69085
Arachnoiditis	Meningitis, Paresthesia, Muscle weakness, Urinary bladder sphincter dysfunction	ORPHA:137817
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega...	ORPHA:51
Kawasaki Disease	Strawberry tongue, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular se...	ORPHA:2331
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Hydronephrosis,...	ORPHA:79403
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:557000
Peroxisome Biogenesis Disorder 1B	Wide nasal bridge, Hepatic fibrosis, Optic atrophy, Leukodystrophy, Hyperoxaluria, Renal cyst, Ep...	OMIM:601539
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Splenomegaly, Pancre...	ORPHA:565612
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Global brain atrophy, Neurodegeneration, Retinal degenerat...	OMIM:234200
Moderate Hemophilia A	Gingival bleeding, Limitation of joint mobility, Hip contracture, Synovitis, Cartilage destructio...	ORPHA:169805
Doors Syndrome	Wide nasal base, Aspiration pneumonia, Adrenal hyperplasia, Lumbar scoliosis, Epicanthus, High pa...	ORPHA:79500
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Branchiooculofacial Syndrome	Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Short neck, Short nasal septu...	OMIM:113620
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hepatomega...	OMIM:243800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint hypermobility, Hyperlordosis, Scoliosis, Kyphosis, Hyperextensibility of the finger joints	OMIM:617821
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Paro...	ORPHA:51636
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Anteriorly placed anus...	OMIM:201750
Chromosome 1P36 Deletion Syndrome, Distal	Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Delayed CN...	OMIM:607872
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Short stature, Scoliosis, Kyphosis	ORPHA:1969
Lambert-Eaton Myasthenic Syndrome	Xerostomia, Keratoconjunctivitis sicca, Abnormality of the orbital region, Progressive proximal m...	ORPHA:43393
Hydranencephaly	Atrophic pituitary gland, Cerebral cortical atrophy, Postnatal growth retardation, Intrauterine g...	ORPHA:2177
Cono-Spondylar Dysplasia	Poor coordination, Anteverted nares, Short neck, Partial agenesis of the corpus callosum, Scolios...	ORPHA:420794
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Low back pain, Limited shoulder movement,...	OMIM:203500
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Cushing Syndrome Due To Ectopic Acth Secretion	Decreased eosinophil count, Lymphopenia, Leukocytosis, Osteoporosis, Vertebral compression fracture	ORPHA:99889
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Hypernatriuria, Decreased testic...	ORPHA:90794
Alstrom Syndrome	Abnormality of the dentition, Decreased response to growth hormone stimulation test, Obesity, Mul...	OMIM:203800
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Tubulointerstitial fibrosis, Lymphadenopathy, Neutropenia, Autoim...	OMIM:607944
Popliteal Pterygium Syndrome	Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o...	OMIM:119500
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Anal stenosis, Axillary apocrine g...	OMIM:181450
Ring Chromosome 13 Syndrome	Wide nasal bridge, Depressed nasal bridge, Growth delay, Bifid scrotum, Anteverted nares, Agenesi...	ORPHA:96176
Elsahy-Waters Syndrome	Wide nasal bridge, Bifid uvula, Anal stenosis, Bifid nasal tip, Bifid scrotum, Bilateral cryptorc...	OMIM:211380
Sotos Syndrome	Abnormal vertebral morphology, Decreased fertility, Cryptorchidism, Hypospadias, Chronic otitis m...	ORPHA:821
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Increased circulating prolactin concentration, Widely spaced teeth, Hypopituit...	OMIM:300942
Holt-Oram Syndrome	Radioulnar synostosis, Joint stiffness, Scoliosis, Kyphosis	ORPHA:392
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Triangular nasal tip, Cryptorchidism, Protruding tongue, Epicanthus, Short neck, H...	OMIM:309580
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic...	OMIM:267010
Wrinkly Skin Syndrome	Osteopenia, Carious teeth, Failure to thrive, Delayed eruption of teeth, Long philtrum, Intrauter...	OMIM:278250
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Knee flexion contracture, Thoracic scoliosis	OMIM:603387
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma, Neoplasm of the pancreas, Multi...	OMIM:193300
Aplasia Cutis-Myopia Syndrome	Meningitis	ORPHA:1117
Complement Factor B Deficiency	Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis	OMIM:615561
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Depressed nasal bridge, Ambiguous genitalia, Pancreatic fibrosis	OMIM:615503
Sheehan Syndrome	Secondary growth hormone deficiency, Breast hypoplasia, Panhypopituitarism, Decreased female libi...	ORPHA:91355
Shwachman-Diamond Syndrome 2	Recurrent infections, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, H...	OMIM:617941
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Back pain, Oligoar...	OMIM:106300
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Glomerulonephritis, Nasolacrimal sac granuloma, Meningitis, R...	ORPHA:2968
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomeg...	OMIM:613471
Somatomammotropinoma	Macroglossia, Impotence, Pituitary adenoma, Kyphosis, Cerebral palsy, Increased circulating prola...	ORPHA:314769
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Osteomyelitis, Keratitis, Decreased number of small peripheral myelinated ner...	OMIM:256800
Viss Syndrome	Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Celiac...	OMIM:619472
Coffin-Lowry Syndrome	Highly arched eyebrow, Narrow palate, Thick nasal septum, Broad columella, Downslanted palpebral ...	OMIM:303600
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Wide nasal bridge, Bifid uvula, Broad nasal tip, Downslanted palpebral fissures, Epicanthus, Unil...	OMIM:619480
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Elevated gamma-glutamyltransferase level, Incoordina...	ORPHA:64
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri...	ORPHA:75565
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, High palate	OMIM:615866
Sepsis In Premature Infants	Oliguria, Invasive fungal infection, Decreased liver function, Reversible renal failure, Splenome...	ORPHA:90051
Primary Hyperoxaluria Type 1	Abnormality of the dentition, Failure to thrive, Hyperoxaluria, Abnormal circulating enzyme conce...	ORPHA:93598
Pmm2-Cdg	Hypoalbuminemia, Osteopenia, Platyspondyly, Multiple joint contractures, Reduced thyroxin-binding...	ORPHA:79318
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan...	ORPHA:31205
Absence Of The Pulmonary Artery	Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom...	ORPHA:980
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Granulomatosis With Polyangiitis	Epistaxis, Abnormality of the nose, Ureteral stenosis, Hemiplegia, Renal insufficiency, Otitis me...	ORPHA:900
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, High palate, Bifid uterus, Supernumerary nipple	ORPHA:1521
Panhypophysitis	Secondary growth hormone deficiency, Decreased male libido, Increased circulating prolactin conce...	ORPHA:95513
Adenohypophysitis	Secondary growth hormone deficiency, Decreased male libido, Increased circulating prolactin conce...	ORPHA:95512
Plague	Inflammation of the large intestine, Lymphadenitis, Splenomegaly, Ileitis, Enterocolitis, Hematem...	ORPHA:707
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Alport Syndrome	Clitoral hypertrophy, Macular degeneration, Retinal flecks	ORPHA:63
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Cutis Laxa, Autosomal Recessive, Type Iic	Nephrocalcinosis, Bilateral cryptorchidism, Biventricular hypertrophy, Median cleft palate, Mitra...	OMIM:617402
Norrie Disease	Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Retin...	ORPHA:649
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Cherubism	Narrow palate, Submandibular lymph node enlargement	OMIM:118400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Recurrent aphthous stomatiti...	ORPHA:29207
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urethra, Ureterocele, Congenital pyloric atresia, Hydronephrosis, Glomerular s...	ORPHA:158684
Duodenal Atresia	Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent infection of the gastrointestinal tract, Splenomegaly, Aplasia of the swe...	OMIM:612132
Cerebrocostomandibular Syndrome	Tracheomalacia, Intrauterine growth retardation, Short hard palate, Short stature, Glossoptosis, ...	ORPHA:1393
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Urethral diverticulum, Small bowel diverticula, Dilatation of the v...	ORPHA:90349
Genitopatellar Syndrome	Wide nasal bridge, Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Anal stenos...	OMIM:606170
Lymphedema-Distichiasis Syndrome	Webbed neck, Distichiasis, Ptosis, Ectropion, Conjunctivitis, Kyphosis, Cleft palate	OMIM:153400
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Malforme...	ORPHA:2052
Peters Plus Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Intestinal fistula, Cryptorchidism, Hydrone...	ORPHA:709
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Wiskott-Aldrich Syndrome	Nephropathy, Epistaxis, Inflammation of the large intestine, Keratitis, Eczematoid dermatitis, Re...	ORPHA:906
Leptospirosis	Acute kidney injury, Hepatitis, Cellular urinary casts, Lymphadenopathy, Thrombocytopenia, Hepato...	ORPHA:509
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system	ORPHA:637
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Severe viral infection, Brain...	ORPHA:544482
Woodhouse-Sakati Syndrome	Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S...	ORPHA:3464
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Pallister-Killian Syndrome	Small scrotum, Supernumerary nipple, Cryptorchidism, Sparse eyelashes, Epicanthus, Hypoplastic la...	OMIM:601803
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Blue irides, Remnants of the hyaloid vascular system, Stel...	OMIM:619539
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Anemia, Cerv...	OMIM:130050
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Spasticity, Facial paralysis, Cerebellar atrophy, Tetraparesis, Hemiplegia, Peripapillary atrophy...	OMIM:175780
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Neu-Laxova Syndrome 1	Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transposition of the great arter...	OMIM:256520
Peters-Plus Syndrome	Renal hypoplasia, Anteriorly placed anus, Cryptorchidism, Ventricular septal defect, Hydronephros...	OMIM:261540
Yunis-Varon Syndrome	Aspiration pneumonia, Cryptorchidism, Anterior concavity of thoracic vertebrae, Agenesis of corpu...	OMIM:216340
Microphthalmia, Syndromic 2	Iris coloboma, Microcornea, Retinal detachment, Remnants of the hyaloid vascular system, Developm...	OMIM:300166
African Trypanosomiasis	Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadenopathy, Abnormal pr...	ORPHA:3385
Systemic Lupus Erythematosus	Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, Hemolytic...	ORPHA:536
Mowat-Wilson Syndrome	Abnormal enteric ganglion morphology, Bifid scrotum, Supernumerary nipple, Abnormal heart morphol...	OMIM:235730
Woodhouse-Sakati Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H...	OMIM:241080
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephroca...	ORPHA:51608
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati...	OMIM:167800
Immunodeficiency 68	Septic arthritis, Recurrent meningitis, Recurrent skin infections, Lymphadenitis	OMIM:612260
Immunodeficiency 67	Recurrent staphylococcal infections, Septic arthritis, Meningitis, Recurrent streptococcal infect...	OMIM:607676
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Narrow palate, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genital...	OMIM:276820
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Limited elbow extension,...	OMIM:300106
Loeys-Dietz Syndrome	Bifid uvula, High palate, Uterine rupture	ORPHA:60030
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Aspiration pneumonia, Difficulty walking, Urinary incontinence, Scoliosis, Kyphosis	OMIM:619482
Wiskott-Aldrich Syndrome	Nephropathy, Epistaxis, Inflammation of the large intestine, Recurrent upper respiratory tract in...	OMIM:301000
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Sacral Defect With Anterior Meningocele	Absence of the sacrum, Urinary retention, Neurogenic bladder, Rectal abscess, Anterior sacral men...	OMIM:600145
Microphthalmia, Syndromic 1	High, narrow palate, Renal hypoplasia, Hydroureter, Cryptorchidism, Aganglionic megacolon, Bicusp...	OMIM:309800
Holoprosencephaly 2	Iris coloboma, Remnants of the hyaloid vascular system	OMIM:157170

Histopathology

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

There is no histopathology data for Gnptab

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gnptab.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum.	Proceedings of the National Academy of Sciences of the United States of America (August 2019)	Gnptab^{tm1a(EUCOMM)Wtsi}	31405983

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

MGI Allele	Allele Type	Produced
Gnptab^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Gnptab^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gnptab MGI:3643902

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E18.5

X-ray

X-ray

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Gnptab mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data