Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Isolated Growth Hormone Deficiency, Type Ib |
|
Micropenis, Reduced circulating growth hormone concentration, Decreased response to growth hormon... |
OMIM:612781 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Decreased circulating luteiniz... |
OMIM:614837 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:3363 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Anterior hypopituitarism |
ORPHA:631 |
Panhypopituitarism, X-Linked |
|
Panhypopituitarism |
OMIM:312000 |
Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... |
OMIM:617690 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Increased circulating free T4 concentration, Short stature, Elevated circulating thyroid-stimulat... |
OMIM:609698 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Decreased response t... |
ORPHA:157954 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Wolfram-Like Syndrome |
|
Diabetes mellitus, Severe postnatal growth retardation, Primary gonadal insufficiency, Delayed pu... |
ORPHA:411590 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612964 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
Pituitary Dwarfism With Large Sella Turcica |
|
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... |
OMIM:262710 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level |
OMIM:202150 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
Thyroid Hormone Metabolism, Abnormal, 3 |
|
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... |
OMIM:620198 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Joubert Syndrome 26 |
|
Short stature, Decreased response to growth hormone stimulation test, Central hypothyroidism, Mic... |
OMIM:616784 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Moynahan Syndrome |
|
Short stature, Hypogonadism, Cachexia |
ORPHA:2574 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Diencephalic Syndrome |
|
Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui... |
ORPHA:1672 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Hypoplasia of penis, Ectopic posterior pituitary, Failure to thrive, Short stat... |
ORPHA:95496 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem... |
ORPHA:432 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... |
ORPHA:226307 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
OMIM:173100 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... |
ORPHA:1227 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Severe short stature, Hypogonadotropic hypogonadism, Decreased response to g... |
OMIM:275400 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Sheehan Syndrome |
|
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... |
ORPHA:91355 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ... |
ORPHA:2410 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Precocious Puberty, Central, 1 |
|
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... |
OMIM:176400 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Severe postnatal growth retardation, Adrenal insufficiency, Im... |
OMIM:262700 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... |
OMIM:300869 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Premature ovarian insufficiency, Hypothyroidism, Short stature |
OMIM:618625 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301033 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Cryptorchidism, Increased circulating... |
ORPHA:163971 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism |
ORPHA:2022 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... |
OMIM:616113 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... |
OMIM:264300 |
Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... |
ORPHA:247768 |
Seckel Syndrome 7 |
|
Severe short stature, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Intra... |
OMIM:614851 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor... |
ORPHA:813 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... |
ORPHA:2495 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Elevated circulating ... |
ORPHA:100083 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... |
ORPHA:3464 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating gonadotropin ... |
ORPHA:243 |
Riboflavin Transporter Deficiency |
|
Cachexia, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Renpenning Syndrome |
|
Severe short stature, Diabetes mellitus, Hypospadias, Cachexia, Growth delay, Decreased testicula... |
ORPHA:3242 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, Am... |
OMIM:202010 |
Mcdonough Syndrome |
|
Cryptorchidism, Short stature, Cachexia |
ORPHA:2471 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... |
OMIM:240950 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Miscarriage, Female infertility |
OMIM:619176 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Short stature, Primary amenorrhea |
OMIM:233400 |
Li-Campeau Syndrome |
|
Cryptorchidism, Micropenis, Hypothyroidism, Short stature |
OMIM:619189 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Birth ... |
OMIM:300148 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... |
OMIM:614736 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm |
OMIM:616534 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Neoplasm of the parathyroid gland, Pituitary adeno... |
ORPHA:163634 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Abnormal endocrine physiology, Hyperthyroidism, Primary hypercor... |
ORPHA:562 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
Ovarian Dysgenesis 4 |
|
Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu... |
OMIM:616185 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Potocki-Shaffer Syndrome |
|
Micropenis, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:99330 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism, Short stature |
OMIM:275120 |
Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyr... |
OMIM:612462 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Satoyoshi Syndrome |
|
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
ORPHA:3130 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma |
OMIM:619908 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Cryptorchidism, Neonatal death, Decreased circulating T4 concentration, Intraut... |
OMIM:608104 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth retardation... |
ORPHA:397590 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
Hydatidiform Mole |
|
Hyperthyroidism, Miscarriage, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Hypothyroidism, Uterus didelphys, Short stature |
ORPHA:2491 |
Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Short stature |
ORPHA:589618 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Hypothyroidism |
OMIM:613970 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response... |
ORPHA:649929 |
Orthostatic Hypotension 1 |
|
Retrograde ejaculation, Reduced circulating prolactin concentration |
OMIM:223360 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Pseudohypoparathyroidism, Type Ia |
|
Short stature, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level,... |
OMIM:103580 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Galloway-Mowat Syndrome 6 |
|
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Decreased bod... |
OMIM:618347 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism, Short stature |
ORPHA:2863 |
4H Leukodystrophy |
|
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... |
ORPHA:289494 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidi... |
OMIM:275100 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... |
ORPHA:363528 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Failure to thrive, Short stature, Adrenal hypoplasia |
OMIM:619151 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss |
ORPHA:298 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Central adrenal insufficiency, Small pituitary glan... |
OMIM:612079 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Short stature, Cryptorchidism, Growth delay, Delayed puberty, Intraute... |
OMIM:616817 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal... |
OMIM:614732 |
Bonnemann-Meinecke-Reich Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test |
ORPHA:1261 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Pituitary Gigantism |
|
Premature pubarche, Elevated circulating growth hormone concentration, Hyperhidrosis, Increased c... |
ORPHA:99725 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
Thyroid Dyshormonogenesis 5 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274800 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ... |
OMIM:620211 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... |
ORPHA:465508 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intraut... |
ORPHA:217346 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... |
ORPHA:398069 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... |
OMIM:615109 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Growth delay, Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congeni... |
OMIM:601427 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Premature Ovarian Failure 16 |
|
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... |
OMIM:618723 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... |
OMIM:614450 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615108 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism, Mild short st... |
OMIM:614613 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... |
OMIM:146510 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Short stature, Cachexia, Obesity, Hyperhidrosis, Hypogonadism, Decreased tes... |
ORPHA:85293 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Mild postnatal growth retardation, Short stature, Cryptorchidism, Elev... |
OMIM:101800 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature |
OMIM:601076 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short stat... |
ORPHA:280679 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Lig4 Syndrome |
|
Small for gestational age, Cryptorchidism, Type II diabetes mellitus, Micropenis, Failure to thri... |
OMIM:606593 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasis, Decreas... |
OMIM:240300 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short stature, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, G... |
OMIM:615866 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Weight loss, Ovarian neoplasm |
ORPHA:83469 |
Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Hypospadias, Sho... |
ORPHA:209905 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus |
ORPHA:280195 |
Allan-Herndon-Dudley Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism |
OMIM:300523 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypogonadism, Infertility, Oligomenorrhea, Type II diabetes mellitus, Type I diabetes mellitus, D... |
ORPHA:412057 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
Aarskog-Scott Syndrome |
|
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... |
OMIM:305400 |
Flynn-Aird Syndrome |
|
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Cachexia |
ORPHA:2047 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Intrauterine growth retardation, Failure to thrive, Congenital hypothyroidism |
ORPHA:96183 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... |
OMIM:158350 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
Alexander Disease Type I |
|
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia |
ORPHA:363717 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Abnormal testis morphology, Short stature, Weight loss |
ORPHA:317 |
Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d... |
ORPHA:769 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Short stature, Elevated circulating luteinizing hormone level, Hypopla... |
OMIM:618419 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... |
OMIM:301035 |
Reni Syndrome |
|
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Hypothyroidism |
OMIM:617575 |
Athyreosis |
|
Thyroid agenesis, Growth delay, Hypothyroidism, Short stature |
ORPHA:95713 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
OMIM:618160 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Small for gestational age, Increase... |
OMIM:609152 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Weight los... |
ORPHA:2905 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Multifocal Atrial Tachycardia |
|
Cryptorchidism, Hypothyroidism |
ORPHA:3282 |
Bangstad Syndrome |
|
Severe short stature, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gon... |
OMIM:210740 |
Isolated Atp Synthase Deficiency |
|
Hypothyroidism, Hypogonadism, Short stature |
ORPHA:254913 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Short stature, Hypothalamic hamartoma, Micropenis, Anterior hypopituitarism |
OMIM:241800 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Hypoplasia of penis, Short stature, Cryptorchidism, Hypothyroidism |
ORPHA:85321 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Azoospermia, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-p... |
ORPHA:300298 |
Ring Chromosome 12 Syndrome |
|
Small for gestational age, Cryptorchidism, Glandular hypospadias, Growth delay, Uterine leiomyoma... |
ORPHA:1439 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Short stature, Anterior pituitary hypoplasia, Crypt... |
OMIM:615849 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Growth delay, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, Hypothyroidism |
OMIM:617796 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Short stature, Amenorrhea |
OMIM:600705 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Hawkinsinuria |
|
Failure to thrive, Hypothyroidism |
ORPHA:2118 |
Temple Syndrome |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... |
OMIM:616222 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Short stature, Maternal diabetes, Panhypopituitarism, Ambiguous genitalia, I... |
ORPHA:280200 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Boomerang Dysplasia |
|
Cryptorchidism, Severe short-limb dwarfism, Decreased response to growth hormone stimulation test |
ORPHA:1263 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Overweight, Micropenis, Dec... |
ORPHA:457240 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... |
ORPHA:54595 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus... |
OMIM:262190 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274400 |
Septooptic Dysplasia |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:182230 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Intrauterine growth retardation, Hypoth... |
ORPHA:254346 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hypothyroidism, Short stature |
OMIM:619013 |
Lig4 Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Growth delay, Type II diabetes mellitus, Hypothyroidism |
ORPHA:99812 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter |
ORPHA:319487 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:2576 |
Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Failure to thrive, Hypergonadotropic hypogonadism, Decreased respon... |
OMIM:606407 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
Allan-Herndon-Dudley Syndrome |
|
Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Short... |
ORPHA:59 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypothyroidism, Diabetes mellitus, Hypogonadism |
ORPHA:98673 |
Premature Ovarian Failure 2A |
|
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... |
OMIM:300511 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... |
ORPHA:96184 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... |
OMIM:618014 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Increased circulating free T3, Thyrotoxicosis with diffuse goiter,... |
ORPHA:525731 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
OMIM:609757 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Sh... |
ORPHA:94065 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Hyperhidrosis, Weight loss, Pheochromocytoma, Elevated circulating c... |
ORPHA:1332 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:2349 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Short stature, Intrauterine growth retardation, Micropenis, Panhypopituitarism, Decreased testicu... |
OMIM:300953 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... |
OMIM:619476 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... |
ORPHA:254531 |
Webb-Dattani Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:615926 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Ovarian cyst, Pan... |
OMIM:246200 |
Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Hypothyroidism, Hypospadias, Intrauterine growth retardation |
ORPHA:1923 |
Wolman Disease |
|
Growth delay, Adrenal insufficiency, Adrenal calcification, Cachexia |
ORPHA:75233 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Severe short stature, Hypospadias, Decreased response to growth hormone stimulation test, Bilater... |
OMIM:618336 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Diabetes mellitus, Mild postnatal growth retardation, Aplasia/Hypoplasia of th... |
ORPHA:456312 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Intrauterine growth retardation, Postnatal growth retardation, Obesity |
ORPHA:254525 |
Silver-Russell Syndrome 1 |
|
Small for gestational age, Hypospadias, Decreased response to growth hormone stimulation test, Te... |
OMIM:180860 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Cryptorchidism, Hypothyroidism, Short stature |
OMIM:618440 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
OMIM:176270 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Aredyld Syndrome |
|
Short stature, Cachexia, Type II diabetes mellitus, Type I diabetes mellitus, Intrauterine growth... |
ORPHA:1133 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Cachexia |
ORPHA:157973 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Insulin Autoimmune Syndrome |
|
Insulin-resistant diabetes mellitus, Weight loss, Hyperinsulinemic hypoglycemia |
ORPHA:411593 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Perineal hypospadias, Growth delay, Intrauterine g... |
ORPHA:66634 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Short stature, Delayed puberty |
ORPHA:2994 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity |
ORPHA:261229 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... |
ORPHA:3044 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Overweight, Failure to thrive, Diabetes mellitus, Hypothyroidism |
ORPHA:391372 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
Monosomy 18Q |
|
Short stature, Bilateral cryptorchidism, Hypothyroidism, Growth delay, Micropenis, Failure to thr... |
ORPHA:1600 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Failure to thrive, Hypothyroidism, Short stature |
OMIM:610883 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hyperinsuline... |
ORPHA:528 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Cryptorchidism, Growth delay, Ectopic... |
ORPHA:3047 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Small for gestational age, Proportionate short stature, Severe postnatal growt... |
ORPHA:391408 |
Kearns-Sayre Syndrome |
|
Anterior hypopituitarism |
ORPHA:480 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Death in infancy, Short stature, Decreased response to growth hormone stimulation test, Hypothyro... |
OMIM:618922 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Short stature, Precocious puberty, Obesity, Delayed puberty, Hypoth... |
ORPHA:819 |
Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Glutaric Aciduria Iii |
|
Failure to thrive, Hyperthyroidism, Goiter |
OMIM:231690 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
African Trypanosomiasis |
|
Miscarriage, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality... |
ORPHA:3385 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Short stature, Cryptorchidism, Truncal obesity, Disproportionate short-limb sh... |
OMIM:616541 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Late-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... |
ORPHA:556037 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Cryptorchidism, Growth delay, Gonadal dysgenesis, Hypogonadism |
ORPHA:3306 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Microsporidiosis |
|
Cachexia, Abnormality of the parathyroid gland, Abnormal endometrium morphology, Thyroiditis, Wei... |
ORPHA:2552 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Hypothyroidism |
OMIM:619851 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... |
ORPHA:556030 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
Whipple Disease |
|
Cachexia, Hypothyroidism, Erectile dysfunction |
ORPHA:3452 |
Martin-Probst Syndrome |
|
Bifid scrotum, Short stature, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyro... |
OMIM:300519 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Short stature, Hypohidrosis |
ORPHA:1882 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Rhyns Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, A... |
OMIM:602152 |
Christianson Syndrome |
|
Death in early adulthood, Cachexia |
ORPHA:85278 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla... |
OMIM:266810 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Cachexia, Thyroid carcinoma, Hashimoto thyroiditis... |
ORPHA:109 |
Chromosome 1P35 Deletion Syndrome |
|
Cryptorchidism, Intrauterine growth retardation, Short stature, Congenital hypothyroidism |
OMIM:617930 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Cachexia, Weight loss |
ORPHA:1979 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Decrea... |
ORPHA:199299 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... |
ORPHA:90790 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Short stature, Decreased response to growth hormone stimulation test |
OMIM:615286 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
OMIM:241850 |
Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Solitary Fibrous Tumor |
|
Vaginal neoplasm, Weight loss, Prostate cancer, Hypoinsulinemia, Abnormal prostate morphology, Ut... |
ORPHA:2126 |
Ohdo Syndrome, Sbbys Variant |
|
Cryptorchidism, Hypospadias, Hypothyroidism |
OMIM:603736 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hypohidrosis, Hypothyroidism |
ORPHA:1812 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... |
OMIM:608747 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism, Short stature, Decreased body weight |
OMIM:607906 |
Triple A Syndrome |
|
Anterior hypopituitarism, Adrenal insufficiency, Short stature |
ORPHA:869 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, D... |
OMIM:618183 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Decreased body weight, Intr... |
OMIM:609053 |
Deeah Syndrome |
|
Death in infancy, Short stature, Decreased response to growth hormone stimulation test, Anterior ... |
OMIM:619004 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Cholelithiasis, Hypot... |
ORPHA:231222 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Trisomy 18 |
|
Short stature, Cachexia, Cryptorchidism, Growth delay, Intrauterine growth retardation, Abnormal ... |
ORPHA:3380 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Growth delay, Testicular atrophy, Short stature |
OMIM:618165 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus,... |
OMIM:601186 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis |
ORPHA:181 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary |
ORPHA:75389 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism |
OMIM:301058 |
Hypertriglyceridemia 1 |
|
Hypopituitarism |
OMIM:145750 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Delayed pube... |
OMIM:616263 |
Rhyns Syndrome |
|
Hypopituitarism |
ORPHA:140976 |
Tetrasomy 12P |
|
Short stature, Cachexia, Hypohidrosis |
ORPHA:884 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Chromosome 2Q37 Deletion Syndrome |
|
Hypothyroidism, Obesity, Short stature |
OMIM:600430 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Severe short stature, Failure to thrive, Decreased response to growth hormone stimulation test |
OMIM:245590 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Delayed puber... |
OMIM:619234 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
16P12.1P12.3 Triplication Syndrome |
|
Bilateral cryptorchidism, Intrauterine growth retardation, Failure to thrive, Decreased response ... |
ORPHA:485405 |
Koolen-De Vries Syndrome |
|
Cryptorchidism, Hypospadias, Hypothyroidism, Short stature |
ORPHA:96169 |
Atelis Syndrome 1 |
|
Hypothyroidism |
OMIM:620184 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Short stature, Vaginal atresia |
OMIM:617914 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... |
OMIM:137920 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism |
ORPHA:2519 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Fragile X Tremor/Ataxia Syndrome |
|
Impotence, Premature ovarian insufficiency, Hypothyroidism |
OMIM:300623 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in infancy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Death in child... |
OMIM:212065 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Small for gestational age, Rhizomelia, Decreased response to growth hormone stimulation test, Sho... |
OMIM:614114 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... |
ORPHA:488632 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Hypospadias, Short stature, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Gro... |
OMIM:300998 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... |
ORPHA:276399 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... |
ORPHA:90301 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Weight loss, Intrauterine growth retardation, Micropenis, Failure to thrive, ... |
OMIM:619487 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Myasthenic Syndrome, Congenital, 22 |
|
Short stature, Decreased response to growth hormone stimulation test |
OMIM:616224 |
Ddost-Cdg |
|
Failure to thrive, Short stature, Primary hypothyroidism |
ORPHA:300536 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Cystinosis |
|
Short stature, Nephrogenic diabetes insipidus, Delayed puberty, Type I diabetes mellitus, Failure... |
ORPHA:213 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Papillar... |
ORPHA:93111 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Premature o... |
ORPHA:85138 |
Mogs-Cdg |
|
Hydrocele testis, Hypothyroidism, External genital hypoplasia, Inappropriate antidiuretic hormone... |
ORPHA:79330 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Small fo... |
ORPHA:268261 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia |
OMIM:616258 |
B4Galt1-Cdg |
|
Small for gestational age, Hypothyroidism |
ORPHA:79332 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Short stature, Follicular thyroid carcinoma, En... |
ORPHA:201 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Failure to thrive |
ORPHA:293181 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Neopla... |
ORPHA:370348 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Growth delay, Death in childhood, Failure to thrive, Hypothyroidism |
OMIM:619147 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:371364 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Growth delay, Adrenal insuff... |
ORPHA:231226 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... |
ORPHA:249 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Short stature, Recurrent pa... |
ORPHA:550 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Thyroid Hypoplasia |
|
Growth delay, Hypothyroidism, Thyroid hypoplasia, Short stature |
ORPHA:95720 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... |
ORPHA:96182 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism, Short stature |
OMIM:619750 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia |
OMIM:618186 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Postnatal growth retardation, ... |
OMIM:620305 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia |
OMIM:201400 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypothyroidism, Failure to thrive in infancy |
OMIM:618829 |
Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Hypospadias, Decreased response to growth hormone stimulation te... |
OMIM:220210 |
Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Short stature, Hypohidrosis |
ORPHA:1563 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Short stature, Weight loss, Micropenis, Hypothyroidism |
OMIM:613673 |
Leprechaunism |
|
Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth retardation, Labial hypertro... |
ORPHA:508 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty |
ORPHA:457260 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Mitochondrial hypertrophy, Fa... |
OMIM:619518 |
Rothmund-Thomson Syndrome Type 1 |
|
Premature ovarian insufficiency, Small for gestational age, Short stature, Cryptorchidism, Growth... |
ORPHA:221008 |
Monosomy 18P |
|
Hypothyroidism, Short stature |
ORPHA:1598 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Short stature |
OMIM:617763 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Premature thelarche, Premature pubarche |
OMIM:616878 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Cachexia |
ORPHA:1438 |
Down Syndrome |
|
Type II diabetes mellitus, Hypothyroidism, Decreased fertility, Obesity |
ORPHA:870 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Decreased body weight |
OMIM:300958 |
Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Abnormal pineal melatonin secretion, Hypothyroidism |
ORPHA:69665 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Death in infancy, Pancreatic adenocarcinoma, Death in early adulthood, ... |
ORPHA:144 |
Juberg-Hayward Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test |
OMIM:216100 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Failure to thrive, Hypothyroidism, Short stature |
OMIM:618999 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:881 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Severe short stature, Cachexia, Death in adolescence, Failure to... |
OMIM:610965 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Growth delay, Hypothyroidism |
OMIM:256300 |
Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia |
ORPHA:1827 |
Optic Pathway Glioma |
|
Precocious puberty, Growth delay |
ORPHA:2086 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Growth delay, Adrenal insuff... |
ORPHA:231214 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Thy... |
ORPHA:37042 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Short stature, Central hypothyroidism, Growth delay... |
ORPHA:1667 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
Peters Plus Syndrome |
|
Hypospadias, Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Congenital ... |
ORPHA:709 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Short stature, Cachexia, Decreased body weight, Testicular torsion, Decreased t... |
ORPHA:800 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cryptorchidism, Failure to thrive, Hypothyroidism, Intrauterine growth retardation |
ORPHA:453499 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test |
OMIM:618624 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Cachexia |
ORPHA:1933 |
Isolated Biliary Atresia |
|
Small for gestational age, Atretic gallbladder, Bile duct proliferation, Severe failure to thrive... |
ORPHA:30391 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Short stature, Decreased response to growth hormone stimulation test, Epididymitis, Delayed puber... |
OMIM:307200 |
Immunodeficiency 102 |
|
Hypothyroidism |
OMIM:301082 |
Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Short stature, Failure to thrive in infancy, Type I diabetes mellitus, Hypothyroidism, Hashimoto ... |
OMIM:613385 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Alexander Disease |
|
Diabetes mellitus, Precocious puberty, Hyperhidrosis, Failure to thrive, Hypothyroidism |
ORPHA:58 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puber... |
ORPHA:649 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Irregular menstruation, Thyroiditis, Polycystic ovaries, Growth delay, Menorrhagia... |
ORPHA:79259 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:3198 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Short stature, Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreatic ins... |
OMIM:615952 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Intrauterine growth retardation, Growth delay, Unilateral cryptorchidism |
ORPHA:447980 |
Lymphatic Malformation 6 |
|
Hydrocele testis, Hypothyroidism, Short stature |
OMIM:616843 |
Slc35A2-Cdg |
|
Failure to thrive in infancy, Short stature, Precocious puberty, Elevated circulating thyroid-sti... |
ORPHA:356961 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty |
OMIM:300801 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Short stature, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hy... |
OMIM:309801 |
Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallu... |
OMIM:603467 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Omenn Syndrome |
|
Failure to thrive, Hypothyroidism, Thyroiditis |
ORPHA:39041 |
Camurati-Engelmann Disease |
|
Slender build, Hypogonadism, Cachexia, Delayed puberty |
ORPHA:1328 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:314769 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Slender ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Slender ... |
ORPHA:363958 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test |
ORPHA:436174 |
Isolated Exencephaly |
|
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes |
ORPHA:563612 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Conge... |
ORPHA:93325 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l... |
ORPHA:2298 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty |
OMIM:619877 |
Meier-Gorlin Syndrome 6 |
|
Severe short stature, Small for gestational age, Decreased response to growth hormone stimulation... |
OMIM:616835 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:963 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:440437 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Increased circulating prolactin... |
OMIM:617675 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia |
OMIM:620073 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Adiposis Dolorosa |
|
Xerostomia, Hypothyroidism, Obesity |
ORPHA:36397 |
Aa Amyloidosis |
|
Hypothyroidism, Adrenal insufficiency |
ORPHA:85445 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Growth delay, Testicular atrophy |
OMIM:613987 |
Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature, Disproporti... |
ORPHA:1855 |
Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:293939 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Cervical neoplasm, Thyroid C cell hyperplasia, Primary hyperparat... |
ORPHA:653 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Woolly Hair Nevus |
|
Precocious puberty |
ORPHA:79414 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Cockayne Syndrome |
|
Anhidrosis, Diabetes mellitus, Severe short stature, Cachexia, Postnatal growth retardation, Cryp... |
ORPHA:191 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Hypopituitarism, Failure to thrive, Delayed puberty |
OMIM:600462 |
Gabriele-De Vries Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:506358 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology, Primary hypothyroidism |
OMIM:225050 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus, Hypothyroidism |
ORPHA:263297 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Growth delay, Hypopituitarism, Failure to thrive, Hypohidrosis |
ORPHA:98813 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty |
OMIM:619356 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
Pseudohypoparathyroidism Type 1B |
|
Elevated circulating parathyroid hormone level, Decreased response to growth hormone stimulation ... |
ORPHA:94089 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Increased circulating prolactin... |
ORPHA:502423 |
Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Vaginal neoplasm, Growth delay, Ambiguous genitalia, Intrauterine growth retardati... |
ORPHA:1052 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormali... |
ORPHA:438213 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Adenoma sebaceum, Hypothyroidism |
OMIM:191100 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Secondary Short Bowel Syndrome |
|
Weight loss, Growth delay, Central hypothyroidism, Primary hypothyroidism, Failure to thrive |
ORPHA:95427 |
Timothy Syndrome |
|
Hypothyroidism |
OMIM:601005 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test |
ORPHA:79323 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Failure to thrive, Hypothyroidism |
OMIM:304790 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Diabetes insipidus, Weight loss |
ORPHA:30925 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Growth delay, Azoospermia, Delayed puberty, Cholelithiasis |
ORPHA:2072 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Thyroid Ectopia |
|
Short stature, Abnormality of the thyroid gland, Growth delay, Ectopic thyroid, Hypothyroidism |
ORPHA:95712 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Abnorm... |
ORPHA:2166 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Pheochromocytoma, Elevated circulating calcitonin concentration, Pa... |
OMIM:162300 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism |
ORPHA:48377 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Ovarian neoplasm |
ORPHA:2221 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic... |
ORPHA:1435 |
Fg Syndrome Type 1 |
|
Short stature, Hypospadias, Cryptorchidism, Small pituitary gland, Slender build |
ORPHA:93932 |
Aicardi-Goutieres Syndrome 1 |
|
Short stature, Hypothyroidism, Diabetes insipidus |
OMIM:225750 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Cryptorchidism, Severe postnatal growth retardation, Intrauterine growth retardation, Hypothyroid... |
OMIM:620005 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Thyroiditis, Growth delay, Type I diabetes mellitus, Failure to thrive, Hypothyroidism |
OMIM:614700 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss |
ORPHA:388 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Failure to thrive in infancy |
OMIM:606367 |
Fucosidosis |
|
Failure to thrive, Hypothyroidism, Hyperhidrosis |
ORPHA:349 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Autoimmune Polyendocrinopathy Type 3 |
|
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xer... |
ORPHA:227982 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Postnatal growth retardation, Thyroiditis, Weight loss, Infertility, Delayed puber... |
OMIM:212750 |
Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Failure to thrive in infancy,... |
OMIM:601808 |
Cohen Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
OMIM:216550 |
Autoimmune Polyendocrinopathy Type 4 |
|
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Anterior pituitary dys... |
ORPHA:227990 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Hypothyroidism, Proportionate short stature |
ORPHA:2108 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... |
OMIM:620186 |
Digeorge Syndrome |
|
Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Obesity, Pa... |
OMIM:188400 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism |
ORPHA:449291 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology |
ORPHA:314621 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, Failure to thrive, Hypothyroidism, Short stature |
OMIM:618005 |
Acrocardiofacial Syndrome |
|
Death in infancy, Hypoplasia of penis, Hyperthyroidism, Hypospadias, Cryptorchidism, Intrauterine... |
ORPHA:2008 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Microphthalmia, Syndromic 6 |
|
Failure to thrive, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anteri... |
OMIM:607932 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:2479 |
3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Hypothyroidism |
ORPHA:445038 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Short stature, Cachexia |
ORPHA:1969 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Intrauterine growth retardation, Hypothyroidism |
OMIM:617713 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Xerostomia, Cachexia |
OMIM:175500 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypospadias, Small for gestational age, Urethrovaginal fistula, Septate vagina... |
OMIM:243800 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Hypothyroidism, Intrauterine growth retardation |
ORPHA:1556 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Failure to thrive, Hypothyroidism, Goiter |
ORPHA:254892 |
Tuberous Sclerosis 2 |
|
Precocious puberty, Adenoma sebaceum, Hypothyroidism |
OMIM:613254 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Neoplasm of the t... |
ORPHA:744 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, Intrauterine grow... |
ORPHA:251071 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Endometrial carcinoma, Hypothyroidism |
ORPHA:457212 |
Cenani-Lenz Syndrome |
|
Hypothyroidism |
ORPHA:3258 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Short stature, Cryptorchidism, Obesity, Hypopla... |
ORPHA:567 |
Reticular Dysgenesis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss |
ORPHA:33355 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Decreased female libido, Adrenal hypoplasia, Primary adrena... |
ORPHA:95409 |
Solitary Median Maxillary Central Incisor |
|
Anterior hypopituitarism, Short stature, Decreased response to growth hormone stimulation test |
OMIM:147250 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Cervix cancer, Multinodular goiter |
OMIM:620189 |
Holoprosencephaly 9 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:610829 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Short ... |
ORPHA:857 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Failure to thrive in infancy |
ORPHA:228426 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Growth delay, Hypothyroidism |
OMIM:226300 |
Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism |
OMIM:618849 |
Hartsfield Syndrome |
|
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Growth delay, Micropenis, Diabetes insipidus |
OMIM:615465 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short stat... |
OMIM:602782 |
Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism |
OMIM:619609 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Short stature, Freckled genitalia |
ORPHA:79076 |
X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia |
ORPHA:52503 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty |
OMIM:301032 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... |
ORPHA:699 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... |
ORPHA:861 |
White-Kernohan Syndrome |
|
Hypothyroidism, Rectovaginal fistula, Obesity |
OMIM:619426 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Cryptorchidism, Obesity, Hypogonadism, Abnormali... |
ORPHA:1606 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... |
ORPHA:733 |
Cardiofaciocutaneous Syndrome 4 |
|
Short stature, Decreased response to growth hormone stimulation test, Hyperhidrosis |
OMIM:615280 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Cachexia, Primary adrenal insufficiency, Weight loss, Failure to thrive |
ORPHA:275761 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Diabetes mellitus, Pancreatic cysts, Elevated circulating thyroid-stimulating hormone concentrati... |
OMIM:610199 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Central hypothyroidism |
ORPHA:514 |
Gomez-Lopez-Hernandez Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test |
OMIM:601853 |
Rett Syndrome |
|
Short stature, Cachexia |
OMIM:312750 |
Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Short stature, Hypohidrosis, W... |
OMIM:219800 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Short stature, Septate vagina, Cryptorchidism, Adrenal insufficiency, Decreased body... |
OMIM:300166 |
Isaacs Syndrome |
|
Weight loss, Hyperhidrosis |
ORPHA:84142 |
Attrv30M Amyloidosis |
|
Impotence, Weight loss |
ORPHA:85447 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Obesity, Hypot... |
ORPHA:444077 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased respons... |
OMIM:214800 |
Carpenter Syndrome 1 |
|
Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity |
OMIM:201000 |
Fanconi Anemia, Complementation Group W |
|
Growth delay, Intrauterine growth retardation, Decreased response to growth hormone stimulation test |
OMIM:617784 |
Cystic Echinococcosis |
|
Ovarian cyst, Abnormality of the testis size, Weight loss |
ORPHA:400 |
Snakebite Envenomation |
|
Hypopituitarism |
ORPHA:449285 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Hypothyroidism, Thyroiditis, Aplasia of the thymus |
ORPHA:83471 |
Immunodeficiency 31C |
|
Diabetes mellitus, Short stature, Weight loss, Growth delay, Delayed puberty, Hypothyroidism |
OMIM:614162 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Growth delay, Primary hypothyroidism, ... |
ORPHA:96176 |
Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Failure to thrive, Short stature, Large for gestational age |
ORPHA:261652 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Short stature, Postnat... |
OMIM:206900 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Hypothyroidism |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Hypothyroidism |
ORPHA:352665 |
Thymoma |
|
Neoplasm of the thyroid gland, Prostate neoplasm, Weight loss |
ORPHA:99867 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hashimoto thyroiditis, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence, Varicocele |
ORPHA:49041 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Myhre Syndrome |
|
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc... |
ORPHA:2588 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Pheochromocytoma, Hyperhidrosis |
ORPHA:2874 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Impotence, Hypothyroidism |
ORPHA:93256 |
Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... |
OMIM:615577 |
Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Short stature, Postnatal growth retardation, Crypto... |
ORPHA:138 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... |
ORPHA:96191 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Hyperhidrosis |
ORPHA:86893 |
Trichohepatoneurodevelopmental Syndrome |
|
Recurrent pancreatitis, Hypoplastic nipples, Decreased body weight, Cholelithiasis, Hypothyroidis... |
OMIM:618268 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism |
OMIM:251900 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Supernumerary nipple, Precocious puberty, Cryptorchidism, Growth delay, Intraut... |
OMIM:615485 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, External genital hypoplasia, Decrea... |
ORPHA:177907 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Fanconi Anemia |
|
Hypospadias, Short stature, Abnormal preputium morphology, Cryptorchidism, Weight loss, Growth de... |
ORPHA:84 |
Acrootoocular Syndrome |
|
Failure to thrive, Small for gestational age, Decreased response to growth hormone stimulation te... |
ORPHA:2980 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Rhizomelia, Postnatal growth retarda... |
OMIM:261540 |
Pycnodysostosis |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Decreased response to growth hormone st... |
ORPHA:763 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... |
OMIM:107480 |
Galactose Epimerase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79238 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity |
ORPHA:412 |
Holoprosencephaly |
|
Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy, Cryptorchidism, Panhypopitu... |
ORPHA:2162 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Cryptorchidism, Disproportionate short stature, Aplasia of the uterus, Intra... |
ORPHA:2879 |
9P13 Microdeletion Syndrome |
|
Precocious puberty, Short stature, External genital hypoplasia |
ORPHA:324313 |
Neuroendocrine Tumor Of The Colon |
|
Atypical pulmonary carcinoid tumor, Carcinoid tumor, Increased serum serotonin, Weight loss |
ORPHA:100080 |
Igg4-Related Ophthalmic Disease |
|
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadeni... |
ORPHA:449563 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Episodic hyperhidrosis, Paraganglioma, Weight loss |
ORPHA:94080 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Abnormality of thyroid physiology, Short stature, Disproportionate sho... |
ORPHA:1830 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... |
OMIM:269200 |
Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp... |
ORPHA:69085 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism |
ORPHA:98808 |
Neuhauser Syndrome |
|
Short stature, Primary hypothyroidism |
OMIM:249310 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical cytomegaly, Large for gestational age, Cryptorchidism, Adrenocortical carcinoma, A... |
ORPHA:116 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportionate short stature, Tr... |
OMIM:210720 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Short stature |
OMIM:300322 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Disproportionate short stature, Truncal obesity, Abnormality of female extern... |
ORPHA:2637 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele |
ORPHA:71273 |
Huntington Disease |
|
Weight loss, Decreased body mass index, Abnormal libido |
ORPHA:399 |
Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Hypopituitarism |
OMIM:603671 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Small for gestational age, Cryptorchidism, Birth length less than 3rd percentile, Po... |
ORPHA:464311 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Postnatal growth retardation, Failure to thrive, Central hypothyroidism |
OMIM:300912 |
Aicardi-Goutières Syndrome |
|
Micropenis, Diabetes mellitus, Hypothyroidism, Short stature |
ORPHA:51 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,... |
ORPHA:293987 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Obesity |
OMIM:619312 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Genitopatellar Syndrome |
|
Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypoplasia, Micropenis, Hypothyroidi... |
OMIM:606170 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Weight loss, Ovarian carcinoma, Exocrine pancreatic... |
ORPHA:1333 |
Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Xerostomia, Hy... |
ORPHA:1896 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96092 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Disproportionate short-limb short stature, Micropenis, Hypospadias, Small pituitary gland |
OMIM:619479 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Hyperhidrosis |
ORPHA:99868 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Short stature, Cryptorchidism, Failure to thrive, Hypothyroidism |
OMIM:619325 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Neuroendocrine Tumor Of The Rectum |
|
Atypical pulmonary carcinoid tumor, Carcinoid tumor, Increased serum serotonin, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Atypical pulmonary carcinoid tumor, Carcinoid tumor, Increased serum serotonin, Weight loss |
ORPHA:100082 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Growth delay, Short stature |
OMIM:163200 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Slender build, Cachexia, Weight loss |
OMIM:603041 |
Chromosome 17Q12 Deletion Syndrome |
|
Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicor... |
OMIM:614527 |
Branchiootorenal Syndrome 1 |
|
Euthyroid goiter |
OMIM:113650 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, Short stature |
OMIM:607944 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Obesity |
ORPHA:163681 |
Syndromic Diarrhea |
|
Small for gestational age, Short stature, Hypoplasia of the thymus, Intrauterine growth retardati... |
ORPHA:84064 |
Pseudoxanthoma Elasticum |
|
Hypothyroidism |
ORPHA:758 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Pancreatitis, Weight loss |
ORPHA:65682 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism |
OMIM:618569 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:220386 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Stüve-Wiedemann Syndrome |
|
Short stature, Hypohidrosis, Hyperhidrosis, Ectopic thyroid, Intrauterine growth retardation, Hyp... |
ORPHA:3206 |
Sponastrime Dysplasia |
|
Rhizomelia, Hypospadias, Small for gestational age, Precocious puberty, Disproportionate short-li... |
ORPHA:93357 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal ph... |
ORPHA:29072 |
Kabuki Syndrome 1 |
|
Short stature, Premature thelarche, Postnatal growth retardation, Cryptorchidism, Congenital hypo... |
OMIM:147920 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Erdheim-Chester Disease |
|
Weight loss, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyperhidrosis |
ORPHA:35687 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryptorchidism, Growth... |
OMIM:194190 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Exocr... |
ORPHA:2255 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hypogonadotropic hypogonadism, Absence of Stensen duct, Decreased response to growth hormone stim... |
OMIM:129900 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Hypogonadotropic hypogonadism, Decreased response to growth hormone stim... |
OMIM:604292 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Failure to thrive, Palmoplantar hyperhidrosis, Congenital hypothyroidism |
OMIM:617527 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Short stature, Decreased response to growth hormone stimulation test, Supernumerary nipple, Large... |
OMIM:213980 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hypothyroidism |
OMIM:615486 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism, Gro... |
OMIM:607872 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Severe short stature, Elevated circulating luteinizing hor... |
OMIM:617253 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Precocious puberty, Obesity, Growth delay, Type I diabetes mellitus |
OMIM:619269 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Short stature, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth retardation,... |
OMIM:236680 |
Neuroendocrine Tumor Of Stomach |
|
Increased circulating ACTH level, Weight loss, Paraganglioma, Atypical pulmonary carcinoid tumor,... |
ORPHA:100075 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss, Carcinoid tumor, Increased serum serotonin, Neuroendocrine neoplasm |
ORPHA:100085 |
17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Secondary am... |
ORPHA:529962 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:808 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology, Obesity |
ORPHA:563 |
Gm1 Gangliosidosis |
|
Failure to thrive, Abnormality of the scrotum, Short stature, Weight loss |
ORPHA:354 |
Primrose Syndrome |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Short stature, Bilateral cryptorchidism, Crypt... |
OMIM:259050 |
Williams Syndrome |
|
Death in early adulthood, Hypoplasia of penis, Hypogonadotropic hypogonadism, Failure to thrive i... |
ORPHA:904 |
Sarcoidosis |
|
Hyperthyroidism, Diabetes insipidus, Abnormal reproductive system morphology, Enlarged lacrimal g... |
ORPHA:797 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
Aicardi-Goutieres Syndrome 7 |
|
Intrauterine growth retardation, Hypothyroidism, Weight loss |
OMIM:615846 |
Frontorhiny |
|
Hypopituitarism, Diabetes insipidus |
ORPHA:391474 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Isolated Succinate-Coq Reductase Deficiency |
|
Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss |
ORPHA:3208 |
Abetalipoproteinemia |
|
Failure to thrive, Hypothyroidism |
ORPHA:14 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Obesity, Fai... |
ORPHA:2322 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Compensated hypothyroidism |
ORPHA:247691 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Growth delay, Short stature, Decreased response to growth hormone ... |
OMIM:616007 |
Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Sialadenitis, Prostatitis, Pancr... |
ORPHA:449395 |
Wilson Disease |
|
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle |
ORPHA:905 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Unilateral breast hypoplasia, Abnormality of thyroid physiology, Short stature |
OMIM:300968 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Xerostomia, Weight loss, Enlargement of parotid gland, Nod... |
ORPHA:79078 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Failure to thrive in infancy, Annular pancreas, Central hypothyroidism... |
ORPHA:798 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Thyroid C cell hyperplasia |
OMIM:300952 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism |
ORPHA:480864 |
Juvenile Nephropathic Cystinosis |
|
Growth delay, Failure to thrive, Hypothyroidism |
ORPHA:411634 |
Tay-Sachs Disease |
|
Precocious puberty, Abnormal thalamic MRI signal intensity |
ORPHA:845 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal ph... |
ORPHA:276621 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Wiedemann-Steiner Syndrome |
|
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Postnatal growt... |
ORPHA:319182 |
Short Syndrome |
|
Severe short stature, Diabetes mellitus, Weight loss |
ORPHA:3163 |
Bone Dysplasia, Lethal Holmgren Type |
|
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss |
ORPHA:1842 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis |
OMIM:273395 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula |
OMIM:608980 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Adrenal hypoplasia, Mild intrauterine growth retardation, Stillbirth, Thyroid hypo... |
OMIM:308050 |
Scleromyxedema |
|
Abnormality of thyroid physiology |
ORPHA:167635 |
Takayasu Arteritis |
|
Weight loss, Hyperhidrosis |
ORPHA:3287 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Short stature, Aplasia of the thymus, Decreased response to growth hormone st... |
OMIM:618223 |
Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Obesity, Pi... |
OMIM:615873 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Vaginal neoplasm, Abnormality of the female genitalia, Weight loss, Failure to thrive, Uterine ne... |
ORPHA:1018 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Death in infancy, Small scrotum, Hypospadias, Short stature, Septate vagina, Preco... |
OMIM:270400 |
Granulomatosis With Polyangiitis |
|
Diabetes insipidus, Weight loss, Abnormality of the hypothalamus-pituitary axis, Prostatitis, Pan... |
ORPHA:900 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss |
ORPHA:90003 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Hypoparathyroidism, Obesity |
ORPHA:369837 |
Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to growth hormone... |
ORPHA:3455 |
Pulmonary Alveolar Microlithiasis |
|
Gonadal calcification, Testicular microlithiasis, Decreased fertility, Weight loss |
ORPHA:60025 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Shwachman-Diamond Syndrome |
|
Failure to thrive, Diabetes mellitus, Short stature, Decreased response to growth hormone stimula... |
ORPHA:811 |
Bilateral Polymicrogyria |
|
Central hypothyroidism |
ORPHA:268940 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Rhizomelia, Hypospadias |
OMIM:615877 |
Fanconi Anemia, Complementation Group L |
|
Growth delay, Intrauterine growth retardation, Micropenis, Aplasia of the uterus |
OMIM:614083 |
Nijmegen Breakage Syndrome |
|
Short stature, Cachexia |
ORPHA:647 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Stillbirth, Neonatal death, Intrauterine growth retardation |
OMIM:256520 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Hypothyroidism |
ORPHA:909 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Short stature, Abnormality of the endocrine system, Thyroiditis, Growth delay, Primary hypothyroi... |
ORPHA:391487 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Growth delay, Failure to thrive, Congenital hypothyroidism |
OMIM:616973 |
Al Amyloidosis |
|
Abnormal salivary gland morphology, Xerostomia, Autonomic erectile dysfunction, Weight loss |
ORPHA:85443 |
Classic Hodgkin Lymphoma |
|
Weight loss, Hyperhidrosis |
ORPHA:391 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Decreased response to growth hormone stimulation test |
OMIM:617260 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Failure to thrive in infancy, Short stature, Obesity, Early onset of sexual ma... |
OMIM:194050 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Small pituitary gland, Uni... |
OMIM:619503 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... |
ORPHA:103918 |
Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Death in infancy, Short stature, Aplasia of the uterus |
OMIM:274000 |
Toxic Epidermal Necrolysis |
|
Abnormal vagina morphology, Pancreatitis, Weight loss |
ORPHA:537 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Rhizomelia, Disproportionate short-limb short stature, Congenital hypothyroidism |
OMIM:271510 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Thyroiditis, Weight loss |
ORPHA:139402 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Sotos Syndrome |
|
Hypospadias, Phimosis, Cryptorchidism, Decreased fertility, Hydrocele testis, Hypothyroidism |
ORPHA:821 |
Hydranencephaly |
|
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... |
ORPHA:2177 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Aicardi Syndrome |
|
Precocious puberty, Postnatal growth retardation, Dilated third ventricle |
OMIM:304050 |
Myasthenia Gravis |
|
Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis |
ORPHA:589 |
Brucellosis |
|
Small for gestational age, Miscarriage, Orchitis, Epididymitis, Hyperhidrosis, Weight loss, Failu... |
ORPHA:1304 |
Pyomyositis |
|
Weight loss, Testicular teratoma |
ORPHA:764 |
Down Syndrome |
|
Hypothyroidism, Short stature |
OMIM:190685 |
Giant Cell Arteritis |
|
Weight loss, Diabetes insipidus, Hyperhidrosis |
ORPHA:397 |
Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Disproportionate short stature, Anteriorly displaced ... |
OMIM:276820 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Weight loss, Hypoplastic male external genitalia, Se... |
ORPHA:740 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Weight loss, Pancreatic hypoplasia, Intrauterine gr... |
ORPHA:99885 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:47 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Neurofibromatosis Type 1 |
|
Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Pheochrom... |
ORPHA:636 |
Coffin-Siris Syndrome 1 |
|
Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Aplasia of the uterus, ... |
OMIM:135900 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Short stature, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Witteveen-Kolk Syndrome |
|
Unilateral cryptorchidism, Hypospadias, Decreased response to growth hormone stimulation test, Ph... |
OMIM:613406 |
Acute Promyelocytic Leukemia |
|
Metrorrhagia, Weight loss |
ORPHA:520 |
Ileal Neuroendocrine Tumor |
|
Small intestine carcinoid, Increased serum serotonin, Weight loss |
ORPHA:100078 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Obesity |
OMIM:301066 |
Stickler Syndrome |
|
Short stature, Slender build, Cachexia |
ORPHA:828 |
Doors Syndrome |
|
Ambiguous genitalia, Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
Infantile Nephropathic Cystinosis |
|
Growth delay, Failure to thrive, Abnormality of thyroid physiology |
ORPHA:411629 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short stature, Precocious puberty, Growth delay, Macroorchidism, Failure to thrive |
OMIM:619950 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism |
OMIM:616682 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Floating-Harbor Syndrome |
|
Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryptorchidism, Growth... |
ORPHA:2044 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Micropenis, Failure to thrive |
ORPHA:1934 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test |
OMIM:180500 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Yao Syndrome |
|
Xerostomia, Weight loss |
OMIM:617321 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Aicardi Syndrome |
|
Precocious puberty, Delayed puberty |
ORPHA:50 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79242 |
Postinfectious Vasculitis |
|
Orchitis, Weight loss |
ORPHA:48435 |
Behçet Disease |
|
Orchitis, Pancreatitis, Weight loss |
ORPHA:117 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Weight loss, Hyperhidrosis |
ORPHA:52417 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Fatal Familial Insomnia |
|
Weight loss, Hyperhidrosis |
OMIM:600072 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Pancreatitis, Weight loss |
ORPHA:36426 |
Primary Sclerosing Cholangitis |
|
Thyroiditis, Weight loss, Neoplasm of the gallbladder, Type I diabetes mellitus, Cholelithiasis, ... |
ORPHA:171 |
Tolchin-Le Caignec Syndrome |
|
Precocious puberty |
OMIM:618971 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Weight loss |
ORPHA:188 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal adrenal morphology, Weight loss |
ORPHA:284 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Panhypopituitarism |
OMIM:610828 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
17Q11 Microdeletion Syndrome |
|
Short stature, Precocious puberty, Glomus jugular tumor, Elevated circulating parathyroid hormone... |
ORPHA:97685 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Pallister-Killian Syndrome |
|
Anhidrosis, Small scrotum, Hypospadias, Rhizomelia, Supernumerary nipple, Mesomelic/rhizomelic li... |
OMIM:601803 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Okamoto Syndrome |
|
Severe postnatal growth retardation, Bifid uterus |
ORPHA:2729 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Viss Syndrome |
|
Failure to thrive, Hypothyroidism, Short stature |
OMIM:619472 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Polymyositis |
|
Weight loss |
ORPHA:732 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Weight loss |
ORPHA:79430 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Weight loss |
ORPHA:20 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Lysinuric Protein Intolerance |
|
Pancreatitis, Failure to thrive, Decreased response to growth hormone stimulation test |
ORPHA:470 |
Primary Intestinal Lymphangiectasia |
|
Growth delay, Weight loss |
ORPHA:90362 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Chronic Graft Versus Host Disease |
|
Weight loss, Abnormal vagina morphology, Xerostomia, Phimosis |
ORPHA:99921 |
Familial Thrombocytosis |
|
Weight loss, Miscarriage, Hyperhidrosis |
ORPHA:71493 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse |
ORPHA:286 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:183 |
Caroli Disease |
|
Cholelithiasis, Weight loss |
ORPHA:53035 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Rat-Bite Fever |
|
Pancreatitis, Parotitis, Weight loss |
ORPHA:31205 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:37 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
Nocardiosis |
|
Abnormality of the adrenal glands, Thyroiditis, Weight loss |
ORPHA:31204 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Mucolipidosis Type Ii |
|
Postnatal growth retardation, Short stature, Weight loss |
ORPHA:576 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Anoperineal fistula, Weight loss |
OMIM:301074 |
Pancreatoblastoma |
|
Pancreatic calcification, Weight loss |
ORPHA:677 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Weight loss, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Riddle Syndrome |
|
Short stature, Weight loss |
ORPHA:420741 |
Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Enlarged lacrimal glands, Weight loss |
OMIM:181000 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Weight loss |
ORPHA:85408 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Weight loss |
ORPHA:50918 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anoperineal fistula, Weight loss |
OMIM:619381 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Weight loss |
ORPHA:3337 |
Choreoacanthocytosis |
|
Weight loss |
ORPHA:2388 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |