Rare Disease Library

Hereditary thrombophilia due to congenital antithrombin deficiency

Hereditary thrombophilia due to congenital antithrombin 3 deficiency

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Hereditary thrombophilia due to congenital HRG deficiency

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Congenital disorder of glycosylation due to PIGM deficiency · PIGM-CDG

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

Isolated growth hormone deficiency type IB

Congenital IGHD type IB · Congenital isolated GH deficiency type IB

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

Kostmann syndrome

Infantile agranulocytosis · Severe congenital neutropenia type 3

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

Mild hemophilia A

Mild congenital factor VIII deficiency · Mild congenital F8 deficiency

Mild hemophilia B

Mild congenital factor IX deficiency · Mild congenital F9 deficiency

Moderate hemophilia A

Moderate congenital factor VIII deficiency · Moderate congenital F8 deficiency

Moderate hemophilia B

Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency

Multiple congenital anomalies-hypotonia-seizures syndrome

Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Obesity due to congenital leptin deficiency

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

Postural orthostatic tachycardia syndrome due to NET deficiency

Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency

Severe combined immunodeficiency due to CORO1A deficiency

SCID due to CORO1A deficiency · SCID due to coronin-1A deficiency

Severe combined immunodeficiency due to CTPS1 deficiency

SCID due to CTPS1 deficiency

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT deficiency

Severe congenital neutropenia

Severe congenital neutropenia due to G6PC3 deficiency

SCN due to G6PC3 deficiency · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

Severe congenital neutropenia due to JAGN1 deficiency

Severe congenital neutropenia due to jagunal homolog 1 deficiency · SCN due to JAGN1 deficiency

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency · SCN-developmental delay syndrome due to SRP54 deficiency

Severe hemophilia A

Severe congenital factor VIII deficiency · Severe congenital F8 deficiency

Severe hemophilia B

Severe congenital factor IX deficiency · Severe congenital F9 deficiency

T-B+ severe combined immunodeficiency due to CD45 deficiency

T-B+ SCID due to CD45 deficiency

XMEN

CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency